ClinVar Miner

Submissions for variant NM_020041.3(SLC2A9):c.374C>T (p.Thr125Met)

gnomAD frequency: 0.00006  dbSNP: rs181509591
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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 RCV000201283 SCV002783263 likely pathogenic Hypouricemia, renal, 2 2022-04-20 criteria provided, single submitter clinical testing
OMIM RCV000201283 SCV000256068 pathogenic Hypouricemia, renal, 2 2012-03-01 no assertion criteria provided literature only

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