Submissions for variant NM_000264.5(PTCH1):c.3150C>T (p.Pro1050=)

gnomAD frequency: 0.00021  dbSNP: rs149398794

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000205907	SCV000260879	benign	Gorlin syndrome	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000438534	SCV000514301	benign	not specified	2015-03-26	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics	RCV000571406	SCV000674470	likely benign	Hereditary cancer-predisposing syndrome	2017-02-14	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.
Sema4, Sema4	RCV000571406	SCV002526877	benign	Hereditary cancer-predisposing syndrome	2021-05-05	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000205907	SCV004017157	benign	Gorlin syndrome	2023-07-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004547488	SCV004777515	likely benign	PTCH1-related disorder	2021-12-30	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).