ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.2677A>G (p.Thr893Ala)

gnomAD frequency: 0.00104  dbSNP: rs188342700
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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 RCV001522618 SCV001732193 benign Imerslund-Grasbeck syndrome 2025-01-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706242 SCV005226999 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003921176 SCV004735612 likely benign CUBN-related disorder 2022-12-18 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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