ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.349-8A>G

gnomAD frequency: 0.00129  dbSNP: rs188559699
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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 RCV000863267 SCV001003900 likely benign Imerslund-Grasbeck syndrome 2025-01-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507478 SCV002811928 likely benign Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2021-09-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705804 SCV005227015 likely benign not provided criteria provided, single submitter not provided

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