ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.562-13C>T

gnomAD frequency: 0.03315  dbSNP: rs78138007
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147976 SCV000195470 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000147976 SCV000306519 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000328288 SCV000411620 benign Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV001515601 SCV001723705 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001515601 SCV001895061 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000328288 SCV002514895 benign Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2021-12-05 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000147976 SCV001957675 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000147976 SCV001966218 benign not specified no assertion criteria provided clinical testing

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