ClinVar Miner

Submissions for variant NM_175875.5(SIX5):c.2077G>A (p.Val693Met) (rs2341097)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000252448 SCV000316589 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000252448 SCV000729877 benign not specified 2017-05-09 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000605912 SCV000743925 benign Branchiootorenal syndrome 2 2017-07-28 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000605912 SCV000733899 benign Branchiootorenal syndrome 2 no assertion criteria provided clinical testing

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