ClinVar Miner

Submissions for variant NM_015352.2(POFUT1):c.144C>T (p.Ala48=)

gnomAD frequency: 0.00001  dbSNP: rs770942717
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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 RCV001500609 SCV001705401 likely benign Dowling-Degos disease 2 2019-10-15 criteria provided, single submitter clinical testing

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