owencqueen/cgbench_data huggingface dataset:
Gene: CDH23 (HGNC:13733)
Evidence Code: BP5 — Original ACMG Summary
Variant found in a case with an alternate molecular basis for disease.
Gene: CDH23 (HGNC:13733)
Evidence Code: BP5 — Supporting
Modification Type: None
Variant in an autosomal dominant gene found in a patient with an alternate explanation.




Autosomal recessive: Do not use. An individual could be carrier of pathogenic variant and have an alternate cause. Therefore, BP5 shouldn’t be used as evidence for benign in this case.




Autosomal dominant: Can use BP5 as outlined by Richards 2015.




Caveat: consider whether multiple pathogenic autosomal dominant variants could cause a more severe phenotype or whether multigenic inheritance is known to occur (example: Bardet-Biedl syndrome).
Gene: CDH23 (HGNC:13733)
Evidence Code: BP6 — Original ACMG Summary
Reputable source recently reports variant as benign, but the evidence is not available to the laboratory to perform an independent evaluation.
Gene: CDH23 (HGNC:13733)
Evidence Code: BP7 — Original ACMG Summary
A synonymous variant for which splicing prediction algorithms predict no impact to the splice consensus sequence nor the creation of a new splice site AND the nucleotide is not highly conserved.
Gene: CDH23 (HGNC:13733)
Evidence Code: BP7 — Supporting
Modification Type: None
Silent variant with no predicted impact to splicing.
No changes. Follow recommendations as outlined in Richard 2015 and/or ClinGen's Sequence Variant Interpretation working group.