Submissions for variant NM_000264.5(PTCH1):c.1247C>G (p.Thr416Ser)

gnomAD frequency: 0.00009  dbSNP: rs201174718

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000556908	SCV000622904	likely benign	Gorlin syndrome	2024-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001010538	SCV001170754	likely benign	Hereditary cancer-predisposing syndrome	2021-04-02	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.
GeneDx	RCV001552955	SCV001773737	likely benign	not provided	2019-10-29	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 19362041, 18502968, 30093976, 24728327, 24668667)
Sema4, Sema4	RCV001010538	SCV002526801	likely benign	Hereditary cancer-predisposing syndrome	2021-11-25	criteria provided, single submitter	curation
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000121905	SCV002773929	benign	not specified	2021-07-16	criteria provided, single submitter	clinical testing
ITMI	RCV000121905	SCV000086109	not provided	not specified	2013-09-19	no assertion provided	reference population
PreventionGenetics, part of Exact Sciences	RCV004551193	SCV004790376	likely benign	PTCH1-related disorder	2022-12-29	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).