ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.3096del (p.Ala1031_Tyr1032insTer)

gnomAD frequency: 0.00001  dbSNP: rs386833781
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002483066 SCV002788362 likely pathogenic Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2021-11-11 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049746 SCV000082153 probable-pathogenic Imerslund-Grasbeck syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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