ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.1112-12A>G

gnomAD frequency: 0.00014  dbSNP: rs762175932
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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 RCV002204805 SCV002352796 likely benign Imerslund-Grasbeck syndrome 2023-12-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507908 SCV002813016 likely benign Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2022-03-23 criteria provided, single submitter clinical testing

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