ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.1088A>G (p.Asp363Gly)

dbSNP: rs138044409
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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 RCV001455439 SCV001659199 likely benign Imerslund-Grasbeck syndrome 2024-11-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706180 SCV005227009 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003955995 SCV004785151 likely benign CUBN-related disorder 2021-10-21 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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