ClinVar Miner

Submissions for variant NM_015352.2(POFUT1):c.741C>T (p.Asn247=)

gnomAD frequency: 0.00030  dbSNP: rs138369052
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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 RCV001512518 SCV001719948 benign Dowling-Degos disease 2 2021-04-23 criteria provided, single submitter clinical testing

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