ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.6560C>T (p.Ser2187Leu)

gnomAD frequency: 0.00026  dbSNP: rs143899993
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001759676 SCV002005309 uncertain significance not provided 2019-04-22 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31130284)
Fulgent Genetics, Fulgent Genetics RCV002488073 SCV002792103 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2022-02-26 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000984905 SCV001132810 uncertain significance Imerslund-Grasbeck syndrome 2019-01-29 no assertion criteria provided clinical testing

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