ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.5130C>T (p.Ser1710=)

gnomAD frequency: 0.00015  dbSNP: rs750798030
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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 RCV001398740 SCV001600515 likely benign Imerslund-Grasbeck syndrome 2023-11-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499844 SCV002810571 likely benign Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2021-08-12 criteria provided, single submitter clinical testing

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