ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.1712G>A (p.Arg571His) (rs138799379)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081138 SCV000557859 likely benign Hereditary hemorrhagic telangiectasia 2020-09-16 criteria provided, single submitter clinical testing
GeneDx RCV000834993 SCV000976766 likely benign not provided 2018-04-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
NIHR Bioresource Rare Diseases, University of Cambridge RCV001262059 SCV001439439 likely benign Hereditary hemorrhagic telangiectasia type 1 2018-01-01 criteria provided, single submitter research BS1 +BP2+BP6

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