Submissions for variant NM_000264.5(PTCH1):c.3687G>A (p.Thr1229=)

gnomAD frequency: 0.00048  dbSNP: rs139123130

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000227562	SCV000284346	benign	Gorlin syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000574480	SCV000674502	likely benign	Hereditary cancer-predisposing syndrome	2017-06-16	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001844095	SCV002103427	benign	not specified	2022-02-14	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000574480	SCV002526911	benign	Hereditary cancer-predisposing syndrome	2021-06-07	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000227562	SCV004017170	benign	Gorlin syndrome	2023-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003422131	SCV004160186	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	PTCH1: BP4, BP7, BS1
PreventionGenetics, part of Exact Sciences	RCV004547588	SCV004780617	likely benign	PTCH1-related disorder	2019-11-26	criteria provided, single submitter	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).