ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.700-18C>T (rs10423651)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000604973 SCV000745379 benign Primary autosomal recessive microcephaly 2 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000604973 SCV000733879 benign Primary autosomal recessive microcephaly 2 no assertion criteria provided clinical testing
GeneDx RCV000147978 SCV000169807 benign not specified 2013-12-18 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.
Genetic Services Laboratory, University of Chicago RCV000147978 SCV000195472 likely benign not specified no assertion criteria provided clinical testing
PreventionGenetics RCV000147978 SCV000306520 benign not specified criteria provided, single submitter clinical testing

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