ClinVar Miner

Submissions for variant NM_016204.4(GDF2):c.326T>C (p.Val109Ala)

gnomAD frequency: 0.00002  dbSNP: rs782118500
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV001262086 SCV001439475 likely benign Telangiectasia, hereditary hemorrhagic, type 5 2018-01-01 criteria provided, single submitter research BS1 + BP2
Invitae RCV001262086 SCV001594672 likely benign Telangiectasia, hereditary hemorrhagic, type 5 2024-01-24 criteria provided, single submitter clinical testing

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