ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.1754C>T (p.Thr585Ile)

gnomAD frequency: 0.00382  dbSNP: rs111992415
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000908244 SCV001052992 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294413 SCV002587152 uncertain significance Kidney disorder 2016-12-12 criteria provided, single submitter clinical testing
GeneDx RCV000908244 SCV003762090 likely benign not provided 2023-01-30 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
PreventionGenetics, part of Exact Sciences RCV004533473 SCV004748701 benign UMOD-related disorder 2019-07-24 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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