Submissions for variant NM_000264.5(PTCH1):c.4218C>T (p.His1406=)

gnomAD frequency: 0.00023  dbSNP: rs372558350

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000206701	SCV000260777	likely benign	Gorlin syndrome	2024-01-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000565539	SCV000674552	likely benign	Hereditary cancer-predisposing syndrome	2017-06-08	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	RCV003477692	SCV004219250	benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004547483	SCV004774704	likely benign	PTCH1-related disorder	2021-08-04	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).