ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.1348-17del

dbSNP: rs750690933
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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 RCV003824505 SCV004629919 benign Gorlin syndrome 2023-11-22 criteria provided, single submitter clinical testing

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