ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.585_586delinsGA (p.Cys195_Asp196delinsTrpAsn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio Biología Molecular, Sanatorio Americano RCV005012283 SCV005620357 likely pathogenic Familial juvenile hyperuricemic nephropathy type 1 2022-10-27 criteria provided, single submitter clinical testing

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