ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.775G>A (p.Gly259Ser)

dbSNP: rs1575494302
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000995855 SCV001150236 pathogenic RFT1-congenital disorder of glycosylation 2019-06-11 criteria provided, single submitter clinical testing

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