ClinVar Miner

Submissions for variant NM_015352.2(POFUT1):c.867G>A (p.Glu289=)

gnomAD frequency: 0.00097  dbSNP: rs140900043
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001520725 SCV001729900 benign Dowling-Degos disease 2 2023-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717802 SCV005315039 benign not provided criteria provided, single submitter not provided

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