ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.1455G>A (p.Glu485=) (rs150456852)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000756085 SCV000527105 likely benign not provided 2020-03-26 criteria provided, single submitter clinical testing
Invitae RCV001088945 SCV000754366 benign Hereditary hemorrhagic telangiectasia 2020-10-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756085 SCV000883801 benign not provided 2017-05-17 criteria provided, single submitter clinical testing

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