Submissions for variant NM_000264.5(PTCH1):c.1809C>T (p.Arg603=)

gnomAD frequency: 0.00010  dbSNP: rs145690756

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000199059	SCV000252667	benign	Gorlin syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000569655	SCV000674504	likely benign	Hereditary cancer-predisposing syndrome	2016-12-21	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.
Fulgent Genetics, Fulgent Genetics	RCV002503775	SCV002795883	likely benign	Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Holoprosencephaly 7	2022-05-31	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000199059	SCV004017172	benign	Gorlin syndrome	2023-07-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004737311	SCV005351812	likely benign	PTCH1-related disorder	2024-05-31	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).