Submissions for variant NM_000264.5(PTCH1):c.4302C>T (p.Asp1434=)

gnomAD frequency: 0.00008  dbSNP: rs201357130

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000526656	SCV000623039	likely benign	Gorlin syndrome	2025-01-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000567943	SCV000674512	likely benign	Hereditary cancer-predisposing syndrome	2017-04-20	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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV003237887	SCV002011168	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000567943	SCV002535167	likely benign	Hereditary cancer-predisposing syndrome	2022-01-22	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV003237887	SCV004160171	likely benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	PTCH1: BP4, BP7
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003237887	SCV004219256	likely benign	not provided	2023-03-23	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV005231008	SCV005873440	likely benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing