ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.3624C>T (p.Ala1208=)

dbSNP: rs149691476
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001084986 SCV000284341 benign Gorlin syndrome 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565657 SCV000674526 likely benign Hereditary cancer-predisposing syndrome 2017-08-17 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.
Eurofins Ntd Llc (ga) RCV000732074 SCV000859975 uncertain significance not provided 2018-03-12 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000732074 SCV002046729 benign not provided 2021-03-16 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000565657 SCV002526901 benign Hereditary cancer-predisposing syndrome 2021-06-16 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV004547585 SCV004758768 likely benign PTCH1-related disorder 2019-11-26 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).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.