ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.430G>A (p.Asp144Asn)

gnomAD frequency: 0.00009  dbSNP: rs769398465
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001363496 SCV001559611 likely benign not provided 2025-01-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488112 SCV002779018 uncertain significance Familial juvenile hyperuricemic nephropathy type 1 2021-12-17 criteria provided, single submitter clinical testing

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