ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.9942G>A (p.Pro3314=)

dbSNP: rs375963302
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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 RCV001454116 SCV001657828 likely benign Imerslund-Grasbeck syndrome 2024-12-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004743501 SCV005365746 likely benign CUBN-related disorder 2024-08-08 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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