ClinVar Miner

Submissions for variant NM_003738.5(PTCH2):c.265+13C>T

gnomAD frequency: 0.34867  dbSNP: rs3795720
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001789606 SCV002032027 benign Gorlin syndrome 2021-10-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001789606 SCV002439783 benign Gorlin syndrome 2025-02-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714336 SCV005281438 benign not provided criteria provided, single submitter not provided

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