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: 3
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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
Invitae RCV000054631 SCV004313826 likely benign not provided 2023-05-20 criteria provided, single submitter clinical testing
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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