ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.1506G>A (p.Trp502Ter)

gnomAD frequency: 0.00001  dbSNP: rs145818316
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597860 SCV000706468 pathogenic not provided 2017-02-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476318 SCV002798353 likely pathogenic Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2021-12-30 criteria provided, single submitter clinical testing

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