ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.1763G>A (p.Arg588Gln)

gnomAD frequency: 0.00014  dbSNP: rs387907549
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002496729 SCV002814058 uncertain significance Familial juvenile hyperuricemic nephropathy type 1 2021-07-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000054631 SCV004313826 likely benign not provided 2023-05-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000054631 SCV005194266 uncertain significance not provided criteria provided, single submitter not provided
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center RCV000054631 SCV000077321 unknown not provided no assertion criteria provided not provided Converted during submission to Uncertain significance.

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