ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.5469C>T (p.Ile1823=)

gnomAD frequency: 0.00001  dbSNP: rs754694753
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002145663 SCV002451590 likely benign Imerslund-Grasbeck syndrome 2022-07-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486963 SCV002801125 likely benign Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2022-01-26 criteria provided, single submitter clinical testing

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