ClinVar Miner

Submissions for variant NM_174916.3(UBR1):c.1194A>G (p.Gln398=)

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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 RCV002953890 SCV003274536 likely benign not provided 2024-02-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002953890 SCV004136486 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing UBR1: BP4, BP7

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