ClinVar Miner

Submissions for variant NM_015352.2(POFUT1):c.147T>C (p.Asp49=)

gnomAD frequency: 0.00024  dbSNP: rs113552438
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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 RCV001519299 SCV001728143 benign Dowling-Degos disease 2 2023-11-27 criteria provided, single submitter clinical testing

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