Submissions for variant NM_001083961.2(WDR62):c.2549T>C (p.Leu850Ser)

gnomAD frequency: 0.68524  dbSNP: rs2285745

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000147938	SCV000195431	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000147938	SCV000306512	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000576671	SCV000411647	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.
Athena Diagnostics Inc	RCV000710284	SCV000677566	benign	not provided	2017-06-05	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000576671	SCV000745380	benign	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	2015-09-21	criteria provided, single submitter	clinical testing
Invitae	RCV000710284	SCV001720729	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000710284	SCV001941471	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000576671	SCV002514922	benign	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	2021-12-05	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000576671	SCV000733880	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+	RCV000147938	SCV001959667	benign	not specified		no assertion criteria provided	clinical testing