ClinVar Miner

Submissions for variant NM_173569.4(UBN2):c.451C>T (p.Leu151=)

gnomAD frequency: 0.02075  dbSNP: rs76170879
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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 RCV000958996 SCV001105883 benign not provided 2018-04-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000958996 SCV005270656 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003978336 SCV004792791 likely benign UBN2-related disorder 2020-02-26 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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