ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.1686+6T>G (rs369766351)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000462533 SCV000734643 likely benign Osler hemorrhagic telangiectasia syndrome no assertion criteria provided clinical testing
GeneDx RCV000827113 SCV000968735 likely benign not provided 2018-05-08 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.
Invitae RCV000462533 SCV000546124 uncertain significance Osler hemorrhagic telangiectasia syndrome 2017-12-29 criteria provided, single submitter clinical testing

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