ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.882C>T (p.Arg294=)

gnomAD frequency: 0.00007  dbSNP: rs145893445
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000197576 SCV000253196 likely benign Gorlin syndrome 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000252954 SCV000303363 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000564578 SCV000674460 likely benign Hereditary cancer-predisposing syndrome 2017-04-19 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 RCV003430756 SCV004160208 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing PTCH1: BP4, BP7
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003430756 SCV004219265 benign not provided 2022-08-02 criteria provided, single submitter clinical testing

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