ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.4038T>G (p.Ser1346=)

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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 RCV005122130 SCV005747572 likely benign Gorlin syndrome 2024-03-19 criteria provided, single submitter clinical testing

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