ClinVar Miner

Submissions for variant NM_019032.5(ADAMTSL4):c.2484G>A (p.Pro828=) (rs10749657)

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Total submissions: 4
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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 RCV000613540 SCV000733946 benign Ectopia lentis et pupillae no assertion criteria provided clinical testing
GeneDx RCV000244123 SCV000730939 benign not specified 2017-05-19 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.
Illumina Clinical Services Laboratory,Illumina RCV000264056 SCV000348248 benign Ectopia lentis 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000244123 SCV000313302 benign not specified criteria provided, single submitter clinical testing

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