Submissions for variant NM_001083961.2(WDR62):c.1359C>T (p.Asn453=)

gnomAD frequency: 0.00138  dbSNP: rs148667984

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000193171	SCV000249443	uncertain significance	not specified	2015-03-11	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000404359	SCV000411630	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.
Eurofins Ntd Llc (ga)	RCV000193171	SCV000862412	likely benign	not specified	2018-08-01	criteria provided, single submitter	clinical testing
Invitae	RCV000962681	SCV001109777	benign	not provided	2023-11-17	criteria provided, single submitter	clinical testing
GeneDx	RCV000962681	SCV001813421	likely benign	not provided	2020-10-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003955176	SCV004779448	likely benign	WDR62-related condition	2022-07-08	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).