ClinVar Miner

Submissions for variant NM_000047.2(ARSL):c.78A>G (p.Ala26=) (rs35718384)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145035 SCV000192073 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000145035 SCV000301629 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000145035 SCV000518559 benign not specified 2016-08-26 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 RCV000539008 SCV000639844 benign X-linked chondrodysplasia punctata 1 2019-12-31 criteria provided, single submitter clinical testing

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