ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.760_762del (p.Asp254del) (rs387906393)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000755791 SCV000883363 pathogenic not provided 2017-05-23 criteria provided, single submitter clinical testing
OMIM RCV000008735 SCV000028944 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2001-08-02 no assertion criteria provided literature only
OMIM RCV000008736 SCV000028945 pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia 2001-08-02 no assertion criteria provided literature only

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