ClinVar Miner

Submissions for variant NM_015352.2(POFUT1):c.624A>G (p.Leu208=)

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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 RCV002760656 SCV003009633 likely benign Dowling-Degos disease 2 2023-01-24 criteria provided, single submitter clinical testing

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