ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.8937C>T (p.Asn2979=)

gnomAD frequency: 0.00011  dbSNP: rs150730481
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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 RCV003506631 SCV004300856 likely benign Imerslund-Grasbeck syndrome 2024-08-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003929261 SCV004740012 likely benign CUBN-related disorder 2019-04-12 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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