ClinVar Miner

Submissions for variant NM_001008216.2(GALE):c.548T>C (p.Leu183Pro)

dbSNP: rs121908045
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005016234 SCV005646155 likely pathogenic UDPglucose-4-epimerase deficiency; Thrombocytopenia 13, syndromic 2024-01-20 criteria provided, single submitter clinical testing
OMIM RCV000003860 SCV000024025 pathogenic UDPglucose-4-epimerase deficiency 1997-09-01 no assertion criteria provided literature only

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