Submissions for variant NM_000264.5(PTCH1):c.3390C>T (p.Ala1130=)

gnomAD frequency: 0.00003  dbSNP: rs762637887

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000534475	SCV000622991	benign	Gorlin syndrome	2025-01-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001020173	SCV001181616	likely benign	Hereditary cancer-predisposing syndrome	2018-03-15	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	RCV003478093	SCV004219217	benign	not provided	2022-11-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004553161	SCV004715201	likely benign	PTCH1-related disorder	2023-04-27	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).