ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.4970-22A>C

gnomAD frequency: 0.13498  dbSNP: rs74668791
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001617001 SCV001838379 benign not provided 2018-07-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658335 SCV001876421 benign Imerslund-Grasbeck syndrome type 1 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001617001 SCV005316956 benign not provided criteria provided, single submitter not provided

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