Submissions for variant NM_001083961.2(WDR62):c.4312-5T>G

gnomAD frequency: 0.00215  dbSNP: rs182467995

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000147973	SCV000195467	likely benign	not specified	2013-08-02	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000147973	SCV000203813	likely benign	not specified	2014-04-08	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000361714	SCV000411678	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV000585061	SCV000515267	benign	not provided	2018-03-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000585061	SCV000692955	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	WDR62: BP4, BS2
Labcorp Genetics (formerly Invitae), Labcorp	RCV000585061	SCV001119498	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000361714	SCV002514940	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+	RCV000585061	SCV001952248	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000585061	SCV001965079	uncertain significance	not provided		no assertion criteria provided	clinical testing