ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.6039C>T (p.Pro2013=)

gnomAD frequency: 0.00016  dbSNP: rs149569558
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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 RCV000867568 SCV001008810 benign Imerslund-Grasbeck syndrome 2023-09-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487903 SCV002802378 likely benign Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2022-01-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004584813 SCV005074595 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing CUBN: BP4, BP7

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