ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.567C>T (p.Tyr189=)

gnomAD frequency: 0.00007  dbSNP: rs387907553
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000054632 SCV001623832 likely benign not provided 2022-12-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294011 SCV002587517 uncertain significance Kidney disorder 2017-11-01 criteria provided, single submitter clinical testing
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center RCV000054632 SCV000077322 unknown not provided no assertion criteria provided not provided Converted during submission to Uncertain significance.

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