ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.2791+9_2791+16del

gnomAD frequency: 0.00423  dbSNP: rs375796983
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000861651 SCV001002028 benign Imerslund-Grasbeck syndrome 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001558933 SCV001780979 likely benign not provided 2019-12-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501196 SCV002805482 likely benign Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2021-07-17 criteria provided, single submitter clinical testing

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