Submissions for variant NM_000264.5(PTCH1):c.174C>T (p.Ala58=)

gnomAD frequency: 0.00009  dbSNP: rs368563182

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000226758	SCV000284317	benign	Gorlin syndrome	2024-01-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000566146	SCV000674463	likely benign	Hereditary cancer-predisposing syndrome	2017-04-04	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Sema4, Sema4	RCV000566146	SCV002526821	benign	Hereditary cancer-predisposing syndrome	2021-05-28	criteria provided, single submitter	curation
PreventionGenetics, part of Exact Sciences	RCV004547582	SCV004767750	likely benign	PTCH1-related disorder	2019-03-27	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).