ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.727T>C (p.Ser243Pro)

gnomAD frequency: 0.00003  dbSNP: rs372422922
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000205559 SCV000259734 likely benign Gorlin syndrome 2025-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV001026226 SCV001188564 likely benign Hereditary cancer-predisposing syndrome 2023-07-05 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.
Sema4, Sema4 RCV001026226 SCV002535182 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-30 criteria provided, single submitter curation
Baylor Genetics RCV003462369 SCV004206640 uncertain significance Basal cell carcinoma, susceptibility to, 1 2023-05-24 criteria provided, single submitter clinical testing

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