ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.9987G>A (p.Ser3329=)

gnomAD frequency: 0.00182  dbSNP: rs80308930
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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 RCV000861640 SCV001002013 benign Imerslund-Grasbeck syndrome 2023-10-17 criteria provided, single submitter clinical testing
GeneDx RCV001593069 SCV001814717 likely benign not provided 2020-12-11 criteria provided, single submitter clinical testing

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