ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.612G>A (p.Glu204=) (rs747805018)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000560971 SCV000675804 likely benign Hereditary cancer-predisposing syndrome 2016-10-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
GeneDx RCV000424436 SCV000524785 likely benign not specified 2016-09-27 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 RCV000472769 SCV000563225 likely benign Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2017-12-20 criteria provided, single submitter clinical testing

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