owencqueen/cgbench_data huggingface dataset:
Gene: SCN8A (HGNC:10596)
Evidence Code: BP3 — Supporting
Modification Type: No change
In frame-deletions/insertions in a repetitive region without a known function.
Gene: SCN8A (HGNC:10596)
Evidence Code: BP4 — Original ACMG Summary
Multiple lines of computational evidence suggest no impact on gene or gene product (conservation, evolutionary, splicing impact, etc)
Caveat: As many in silico algorithms use the same or very similar input for their predictions, each algorithm cannot be counted as an independent criterion. BP4 can be used only once in any evaluation of a variant.
Gene: SCN8A (HGNC:10596)
Evidence Code: BP4 — Moderate
Modification Type: General recommendation
Follow ClinGen’s recommendations (
PMID: 36413997
), using REVEL as the computational tool.
Gene: SCN8A (HGNC:10596)
Evidence Code: BP4 — Supporting
Modification Type: General recommendation
Follow ClinGen’s recommendations (
PMID: 36413997
), using REVEL as the computational tool.
Gene: SCN8A (HGNC:10596)
Evidence Code: BP5 — Original ACMG Summary
Variant found in a case with an alternate molecular basis for disease.
Gene: SCN8A (HGNC:10596)
Evidence Code: BP5 — Supporting
Modification Type: No change
Variant found in a case with an alternate molecular basis for disease.
Gene: SCN8A (HGNC:10596)
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: SCN8A (HGNC:10596)
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: SCN8A (HGNC:10596)
Evidence Code: BP7 — Supporting
Modification Type: No change
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.