ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.3169-5T>C

gnomAD frequency: 0.00001  dbSNP: rs367654039
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000203997 SCV000260233 benign Gorlin syndrome 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV001711615 SCV000729463 likely benign not provided 2020-09-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV001018939 SCV001180237 likely benign Hereditary cancer-predisposing syndrome 2019-03-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
CeGaT Center for Human Genetics Tuebingen RCV001711615 SCV003917673 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing PTCH1: BP4, BS1
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001711615 SCV004219206 benign not provided 2022-03-11 criteria provided, single submitter clinical testing

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