Submissions for variant NM_001083961.2(WDR62):c.180G>A (p.Val60=)

gnomAD frequency: 0.04216  dbSNP: rs61742664

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000147925	SCV000195418	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000147925	SCV000227188	benign	not specified	2014-07-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000147925	SCV000306507	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000576720	SCV000411616	benign	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	2018-01-12	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.
Athena Diagnostics Inc	RCV000576720	SCV000677563	benign	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	2017-06-05	criteria provided, single submitter	clinical testing
Invitae	RCV001510087	SCV001717029	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001510087	SCV001886787	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000576720	SCV002514892	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+	RCV000147925	SCV001959528	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000147925	SCV001975142	benign	not specified		no assertion criteria provided	clinical testing