ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.10038C>T (p.His3346=)

gnomAD frequency: 0.00019  dbSNP: rs113079734
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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 RCV002173825 SCV002427599 likely benign Imerslund-Grasbeck syndrome 2023-11-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500104 SCV002809387 likely benign Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2021-10-03 criteria provided, single submitter clinical testing

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