ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.2067G>A (p.Gln689=)

gnomAD frequency: 0.00001  dbSNP: rs1408519313
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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 RCV003612155 SCV004531990 likely benign Imerslund-Grasbeck syndrome 2023-11-12 criteria provided, single submitter clinical testing

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