ClinVar Miner

Submissions for variant NM_015352.2(POFUT1):c.542+11G>T

dbSNP: rs139014980
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514355 SCV000609947 likely benign not provided 2017-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060196 SCV002416090 benign Dowling-Degos disease 2 2023-07-17 criteria provided, single submitter clinical testing

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