ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.9204C>T (p.Ile3068=)

gnomAD frequency: 0.00091  dbSNP: rs117755237
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000863687 SCV001004390 benign Imerslund-Grasbeck syndrome 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001772158 SCV002004197 likely benign not provided 2020-04-06 criteria provided, single submitter clinical testing

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