ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.360+4A>G (rs1564457752)

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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 RCV000018151 SCV001441155 likely pathogenic Hereditary hemorrhagic telangiectasia type 1 2018-01-01 criteria provided, single submitter research PS3+PM2+PP4
OMIM RCV000018151 SCV000038430 pathogenic Hereditary hemorrhagic telangiectasia type 1 1997-07-01 no assertion criteria provided literature only

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