Submissions for variant NM_000264.5(PTCH1):c.3375C>T (p.Pro1125=)

gnomAD frequency: 0.00004  dbSNP: rs369760318

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000465447	SCV000560024	benign	Gorlin syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000569953	SCV000674478	likely benign	Hereditary cancer-predisposing syndrome	2017-03-17	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.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003478029	SCV004219215	benign	not provided	2022-04-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004551561	SCV004715853	likely benign	PTCH1-related disorder	2022-05-04	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).