ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.230G>C (p.Cys77Ser)

dbSNP: rs121917768
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517284 SCV000616230 likely pathogenic not provided 2017-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005018887 SCV005638552 likely pathogenic Familial juvenile hyperuricemic nephropathy type 1 2024-05-18 criteria provided, single submitter clinical testing

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