ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.945+10A>C

gnomAD frequency: 0.00001  dbSNP: rs771708898
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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 RCV001472934 SCV001677076 likely benign Gorlin syndrome 2019-10-23 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV005232344 SCV005872971 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing

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