ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.580T>C (p.Phe194Leu)

dbSNP: rs111033726
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000003808 SCV000023973 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 1999-07-01 no assertion criteria provided literature only

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