Submissions for variant NM_000264.5(PTCH1):c.3816C>T (p.Pro1272=)

gnomAD frequency: 0.00009  dbSNP: rs369295226

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000197817	SCV000253190	likely benign	Gorlin syndrome	2025-02-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000576016	SCV000674505	likely benign	Hereditary cancer-predisposing syndrome	2017-06-20	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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV003237760	SCV002011172	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000576016	SCV002526916	likely benign	Hereditary cancer-predisposing syndrome	2021-09-11	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV003237760	SCV004160184	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	PTCH1: BP4, BP7
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003237760	SCV004219233	benign	not provided	2022-11-28	criteria provided, single submitter	clinical testing