Submissions for variant NM_001083961.2(WDR62):c.2975C>T (p.Ser992Leu)

gnomAD frequency: 0.00953  dbSNP: rs74518295

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000147945	SCV000195438	benign	not specified	2015-12-03	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000147945	SCV000228209	benign	not specified	2014-08-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000947937	SCV000521957	benign	not provided	2018-03-21	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000147945	SCV000616288	benign	not specified	2016-10-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000947937	SCV001094130	benign	not provided	2024-01-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001128200	SCV001287610	likely benign	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genome-Nilou Lab	RCV001128200	SCV002514924	benign	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	2021-12-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001128200	SCV002810183	benign	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	2021-08-26	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000947937	SCV005207063	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004551292	SCV004755200	benign	WDR62-related disorder	2019-07-18	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).