ClinVar Miner

Submissions for variant NM_016489.13(NT5C3A):c.569A>G (p.Asn190Ser) (rs104894028)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000004743 SCV000024919 pathogenic Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to 2003-09-01 no assertion criteria provided literature only

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