ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.7990C>G (p.Gln2664Glu)

gnomAD frequency: 0.00007  dbSNP: rs575118918
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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 RCV001320811 SCV001511611 uncertain significance Imerslund-Grasbeck syndrome 2021-08-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476503 SCV002777736 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2022-03-07 criteria provided, single submitter clinical testing

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