ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.9236+8A>G

gnomAD frequency: 0.00038  dbSNP: rs372673718
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000346493 SCV000343303 uncertain significance not provided 2016-07-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001472287 SCV001676416 likely benign Imerslund-Grasbeck syndrome 2025-01-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003949927 SCV004763002 likely benign CUBN-related disorder 2022-03-24 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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