ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.4470C>T (p.Thr1490=)

gnomAD frequency: 0.00005  dbSNP: rs768720429
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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 RCV000864335 SCV001005124 benign Imerslund-Grasbeck syndrome 2023-09-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501230 SCV002804515 likely benign Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2022-02-17 criteria provided, single submitter clinical testing

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