ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe) (rs62109744)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079451 SCV000111330 benign not specified 2013-08-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079451 SCV000195405 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224079 SCV000280856 benign not provided 2016-01-11 criteria provided, single submitter clinical testing
GeneDx RCV000079451 SCV000515257 benign not specified 2016-06-23 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.
Athena Diagnostics Inc RCV000224079 SCV000616285 benign not provided 2018-03-15 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000600097 SCV000745378 likely benign Primary autosomal recessive microcephaly 2 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000600097 SCV000733878 benign Primary autosomal recessive microcephaly 2 no assertion criteria provided clinical testing

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