ClinVar Miner

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

gnomAD frequency: 0.28763  dbSNP: rs10423651
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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.
PreventionGenetics, part of Exact Sciences RCV000147978 SCV000306520 benign not specified criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000604973 SCV000745379 benign Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2015-09-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001518303 SCV001726973 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000604973 SCV002514898 benign Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001518303 SCV005307966 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000147978 SCV000195472 likely benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000604973 SCV000733879 benign Microcephaly 2, primary, autosomal recessive, with or without cortical malformations no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000147978 SCV001954651 benign not specified no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.