ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.4701C>T (p.Tyr1567=)

gnomAD frequency: 0.00030  dbSNP: rs113941731
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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 RCV000863184 SCV001003797 likely benign Imerslund-Grasbeck syndrome 2019-07-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495232 SCV002803595 likely benign Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2021-07-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707426 SCV005226994 likely benign not provided criteria provided, single submitter not provided

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