ClinVar Miner

Submissions for variant NM_174916.3(UBR1):c.4642A>G (p.Thr1548Ala)

gnomAD frequency: 0.05280  dbSNP: rs3917223
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249076 SCV000316557 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001660378 SCV001872250 benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001660378 SCV002407800 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001660378 SCV005289988 benign not provided criteria provided, single submitter not provided

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