ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.1225A>G (p.Asn409Asp) (rs146180912)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000439209 SCV000510872 likely benign not provided 2016-12-02 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Fulgent Genetics,Fulgent Genetics RCV000755657 SCV000883058 likely benign Primary autosomal recessive microcephaly 2 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000147910 SCV000526877 likely benign not specified 2016-04-27 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 RCV000147910 SCV000195401 likely benign not specified 2014-07-08 criteria provided, single submitter clinical testing

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