Submissions for variant NM_001083961.2(WDR62):c.1641G>A (p.Thr547=)

dbSNP: rs2301734

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000147918	SCV000195411	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000147918	SCV000306504	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000147918	SCV000342891	benign	not specified	2016-06-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000576339	SCV000411635	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	RCV000576339	SCV000677561	benign	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	2017-06-09	criteria provided, single submitter	clinical testing
Invitae	RCV001514787	SCV001722718	benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001514787	SCV001828976	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000576339	SCV002514906	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+	RCV000147918	SCV001955548	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000147918	SCV001974912	benign	not specified		no assertion criteria provided	clinical testing