ClinVar Miner

Submissions for variant NM_016204.4(GDF2):c.997C>T (p.Arg333Trp) (rs35129734)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000074346 SCV001001586 likely benign Telangiectasia, hereditary hemorrhagic, type 5 2019-12-31 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000074346 SCV001439478 likely benign Telangiectasia, hereditary hemorrhagic, type 5 2018-01-01 criteria provided, single submitter research BS1 + BP2
OMIM RCV000074346 SCV000105952 pathogenic Telangiectasia, hereditary hemorrhagic, type 5 2013-09-05 no assertion criteria provided literature only

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