ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.1788T>C (p.Gly596=)

gnomAD frequency: 0.00004  dbSNP: rs551538811
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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 RCV003506716 SCV004305021 likely benign Imerslund-Grasbeck syndrome 2025-01-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003909045 SCV004718880 likely benign CUBN-related disorder 2019-06-21 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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