ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.394+20C>T

dbSNP: rs2118872209
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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 RCV002880756 SCV003230777 likely benign Gorlin syndrome 2024-04-15 criteria provided, single submitter clinical testing

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