ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.639T>C (p.Asp213=) (rs775624944)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000342034 SCV000439638 uncertain significance Von Hippel-Lindau syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000421872 SCV000515250 likely benign not specified 2016-01-11 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 RCV000679045 SCV000563221 likely benign not provided 2018-10-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679045 SCV000805360 likely benign not provided 2017-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV001025221 SCV001187368 likely benign Hereditary cancer-predisposing syndrome 2018-04-25 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign

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