ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.1740+18C>T

gnomAD frequency: 0.00381  dbSNP: rs113452476
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001512597 SCV001720042 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488318 SCV002797383 likely benign Familial juvenile hyperuricemic nephropathy type 1 2021-07-21 criteria provided, single submitter clinical testing

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