ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.3045C>T (p.Phe1015=)

gnomAD frequency: 0.00001  dbSNP: rs1404182043
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000873132 SCV001015066 likely benign Gorlin syndrome 2024-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444947 SCV002754094 likely benign Hereditary cancer-predisposing syndrome 2020-06-02 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.
Breakthrough Genomics, Breakthrough Genomics RCV004707443 SCV005222448 likely benign not provided criteria provided, single submitter not provided

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