owencqueen/cgbench_data huggingface dataset:
Gene: MYOC (HGNC:7610)
Evidence Code: PS1 — Strong
Modification Type: Clarification
Same amino acid change as previously established pathogenic variant
Gene: MYOC (HGNC:7610)
Evidence Code: PS1 — Moderate
Modification Type: Clarification,Strength
Same amino acid change as a previously established likely pathogenic variant
Gene: MYOC (HGNC:7610)
Evidence Code: PS2 — Strong
Modification Type: Disease-specific
≥2 confirmed de novo in JOAG
Gene: MYOC (HGNC:7610)
Evidence Code: PS2 — Moderate
Modification Type: Disease-specific,Strength
≥2 confirmed de novo in POAG


Or 1 confirmed de novo in JOAG


Or ≥2 assumed 
de novo
 in JOAG
Gene: MYOC (HGNC:7610)
Evidence Code: PS2 — Supporting
Modification Type: Disease-specific,Strength
1 confirmed de novo in POAG


Or ≥2 assumed 
de novo
 in POAG


Or 1 assumed 
de novo
 in JOAG
Gene: MYOC (HGNC:7610)
Evidence Code: PS3 — Strong
Modification Type: Disease-specific,Gene-specific
Assays with OddsPath >18.7 as per the SVI recommendations.
1
Gene: MYOC (HGNC:7610)
Evidence Code: PS3 — Moderate
Modification Type: Disease-specific,Gene-specific,Strength
Assays with OddsPath >4.3 as per the SVI recommendations.
1
Gene: MYOC (HGNC:7610)
Evidence Code: PS3 — Supporting
Modification Type: Disease-specific,Gene-specific,Strength
Assays with OddsPath >2.1 as per the SVI recommendations.
1
Gene: MYOC (HGNC:7610)
Evidence Code: PS4 — Strong
Modification Type: Gene-specific
≥ 15 probands from multiple independent studies.
Gene: MYOC (HGNC:7610)
Evidence Code: PS4 — Moderate
Modification Type: Gene-specific,Strength
≥ 6 probands from multiple independent studies.
Gene: MYOC (HGNC:7610)
Evidence Code: PS4 — Supporting
Modification Type: Gene-specific,Strength
≥ 2 probands from multiple independent studies.
Gene: MYOC (HGNC:7610)
Evidence Code: PM2 — Supporting
Modification Type: Disease-specific,Gene-specific
Allele frequency ≤ 0.0001 in population databases.
Gene: MYOC (HGNC:7610)
Evidence Code: PM4 — Moderate
Modification Type: Gene-specific
In-frame del/ins, stop-loss variants and truncating variants involving >10% of the protein and located within the conserved olfactomedin domain (AA 246-502).
Gene: MYOC (HGNC:7610)
Evidence Code: PM4 — Supporting
Modification Type: Gene-specific,Strength
In-frame del/ins, stop-loss variants and truncating variants involving ≤10% of the protein and located within the conserved olfactomedin domain (AA 246-502).
Gene: MYOC (HGNC:7610)
Evidence Code: PM5 — Strong
Modification Type: Clarification,Strength
Same residue as 2 previously established pathogenic variants (both assessed independently of PM5)
Gene: MYOC (HGNC:7610)
Evidence Code: PM5 — Moderate
Modification Type: Clarification
Same residue as a previously established pathogenic variant (assessed independently of PM5) or 2 previously established likely pathogenic variants (both assessed independently of PM5)
Gene: MYOC (HGNC:7610)
Evidence Code: PM5 — Supporting
Modification Type: Clarification,Strength
Same residue as a previously established likely pathogenic variant (assessed independently of PM5)
Gene: MYOC (HGNC:7610)
Evidence Code: PP1 — Strong
Modification Type: Clarification,Strength
≥7 meioses in >1 family
Gene: MYOC (HGNC:7610)
Evidence Code: PP1 — Moderate
Modification Type: Clarification,Strength
≥ 5 meioses regardless of the number of families
Gene: MYOC (HGNC:7610)
Evidence Code: PP1 — Supporting
Modification Type: Clarification
≥ 3 meioses regardless of the number of families
Gene: MYOC (HGNC:7610)
Evidence Code: PP3 — Strong
Modification Type: Clarification,Strength
REVEL score of ≥ 0.932
Gene: MYOC (HGNC:7610)
Evidence Code: PP3 — Moderate
Modification Type: Clarification,Strength
REVEL score of 0.773-0.931
Gene: MYOC (HGNC:7610)
Evidence Code: PP3 — Supporting
Modification Type: Clarification
REVEL score of 0.644-0.772
Gene: MYOC (HGNC:7610)
Evidence Code: BA1 — Stand Alone
Modification Type: Disease-specific,Gene-specific
Allele frequency ≥ 0.01 in population databases.
Gene: MYOC (HGNC:7610)
Evidence Code: BS1 — Strong
Modification Type: Disease-specific,Gene-specific
Allele frequency ≥ 0.001 in population databases.
Gene: MYOC (HGNC:7610)
Evidence Code: BS3 — Moderate
Modification Type: Gene-specific,Strength
Applies to variants showing solubility or secretion in functional assays for studies with OddsPath <0.23 as per the SVI recommendations.
Gene: MYOC (HGNC:7610)
Evidence Code: BS3 — Supporting
Modification Type: Gene-specific,Strength
Applies to variants showing solubility or secretion in functional assays for studies with OddsPath <0.48 as per the SVI recommendations.
Gene: MYOC (HGNC:7610)
Evidence Code: BP4 — Strong
Modification Type: Clarification,Strength
REVEL score of ≤ 0.016
Gene: MYOC (HGNC:7610)
Evidence Code: BP4 — Moderate
Modification Type: Clarification,Strength
REVEL score of 0.017-0.183
Gene: MYOC (HGNC:7610)
Evidence Code: BP4 — Supporting
Modification Type: Clarification
For missense variants: REVEL score of 0.184-0.290


For all other variants located outside of donor/acceptor ±1,2 dinucleotide positions, when splicing assay is not available: SpliceAI ≤ 0.1
Gene: MYOC (HGNC:7610)
Evidence Code: BP7 — Supporting
Modification Type: Clarification
Apply to intronic/noncoding and synonymous (silent) exonic variants if BP4 is met