ClinVar Miner

Submissions for variant NM_015352.2(POFUT1):c.588A>G (p.Pro196=)

gnomAD frequency: 0.06274  dbSNP: rs6579005
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000544635 SCV000654187 benign Dowling-Degos disease 2 2024-01-12 criteria provided, single submitter clinical testing
GeneDx RCV001712520 SCV001940392 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001712520 SCV005315038 benign not provided criteria provided, single submitter not provided

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