Submissions for variant NM_001083961.2(WDR62):c.4170A>C (p.Leu1390Phe)

gnomAD frequency: 0.75234  dbSNP: rs1008328

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000147972	SCV000195466	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000147972	SCV000203812	benign	not specified	2014-01-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000147972	SCV000306518	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000576791	SCV000411675	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	RCV000710287	SCV000677572	benign	not provided	2017-06-05	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000576791	SCV000745384	benign	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	2015-09-21	criteria provided, single submitter	clinical testing
Invitae	RCV000710287	SCV001720731	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000710287	SCV001850661	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000576791	SCV002514939	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	RCV000576791	SCV000733884	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+	RCV000147972	SCV001955258	benign	not specified		no assertion criteria provided	clinical testing