ClinVar Miner

Submissions for variant NM_015185.3(ARHGEF9):c.330G>A (p.Glu110=) (rs373866956)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000726610 SCV000639922 likely benign not provided 2019-02-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726610 SCV000701783 uncertain significance not provided 2016-09-30 criteria provided, single submitter clinical testing
GeneDx RCV000596169 SCV000716119 likely benign not specified 2017-02-17 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.
Ambry Genetics RCV000718091 SCV000848953 likely benign History of neurodevelopmental disorder 2017-02-07 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)

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