ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.946-13C>T

gnomAD frequency: 0.00006  dbSNP: rs200749389
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002081908 SCV002423505 benign Gorlin syndrome 2025-01-02 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256927 SCV002527365 likely benign Hereditary cancer-predisposing syndrome 2021-09-15 criteria provided, single submitter curation

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