ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.763G>T (p.Gly255Cys)

dbSNP: rs1830580925
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV001262069 SCV001439453 likely pathogenic Telangiectasia, hereditary hemorrhagic, type 1 2018-01-01 criteria provided, single submitter research PM2+PM1+PP2+PP4

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