ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.9455-13T>C

gnomAD frequency: 0.00021  dbSNP: rs374390875
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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 RCV002103055 SCV002389296 likely benign Imerslund-Grasbeck syndrome 2023-12-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499935 SCV002811919 likely benign Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2021-09-14 criteria provided, single submitter clinical testing

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