ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.10180+30A>G

gnomAD frequency: 0.75316  dbSNP: rs703062
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001527934 SCV001739082 benign not provided 2018-07-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658244 SCV001876407 benign Imerslund-Grasbeck syndrome type 1 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001527934 SCV005316907 benign not provided criteria provided, single submitter not provided

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