ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.2829T>C (p.Ile943=)

gnomAD frequency: 0.00001  dbSNP: rs1835657476
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002666690 SCV002974858 likely benign Imerslund-Grasbeck syndrome 2022-04-17 criteria provided, single submitter clinical testing

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