ClinVar Miner

Submissions for variant NM_020765.3(UBR4):c.6072+5A>G

gnomAD frequency: 0.00220  dbSNP: rs113068889
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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 RCV000909487 SCV001054297 likely benign not provided 2018-08-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003912988 SCV004736684 benign UBR4-related disorder 2019-05-22 no assertion criteria provided 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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