ClinVar Miner

Submissions for variant NM_015352.2(POFUT1):c.372A>T (p.Ala124=)

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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 RCV003009153 SCV003299718 likely benign Dowling-Degos disease 2 2022-08-16 criteria provided, single submitter clinical testing

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