ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.3550-19A>G

dbSNP: rs2136603435
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002103498 SCV002389804 likely benign Gorlin syndrome 2021-06-21 criteria provided, single submitter clinical testing

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