ClinVar Miner

Submissions for variant NM_174916.3(UBR1):c.243A>G (p.Glu81=)

gnomAD frequency: 0.00351  dbSNP: rs79304860
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000965982 SCV001113267 benign not provided 2025-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000965982 SCV004699771 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing UBR1: BP4, BP7, BS1
PreventionGenetics, part of Exact Sciences RCV003916202 SCV004736423 likely benign UBR1-related disorder 2019-06-11 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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