ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.5580T>A (p.His1860Gln)

dbSNP: rs980358703
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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 RCV000638859 SCV000760413 uncertain significance Imerslund-Grasbeck syndrome 2021-09-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483819 SCV002780633 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2022-03-27 criteria provided, single submitter clinical testing

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