ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.7434C>T (p.Cys2478=)

gnomAD frequency: 0.00044  dbSNP: rs148976047
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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 RCV001313034 SCV001503509 likely benign Imerslund-Grasbeck syndrome 2023-11-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499602 SCV002787206 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2022-02-08 criteria provided, single submitter clinical testing

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