ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.3766G>A (p.Val1256Met)

dbSNP: rs150850039
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000167930 SCV000218578 likely benign Gorlin syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001697111 SCV000524415 likely benign not provided 2018-11-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24728327)
Ambry Genetics RCV000566181 SCV000674546 likely benign Hereditary cancer-predisposing syndrome 2018-09-05 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 RCV001697111 SCV002046892 benign not provided 2021-04-10 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000566181 SCV002526913 likely benign Hereditary cancer-predisposing syndrome 2022-02-01 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV004551191 SCV004737867 likely benign PTCH1-related disorder 2020-07-14 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).
ITMI RCV000121895 SCV000086098 not provided not specified 2013-09-19 no assertion provided reference population

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