Submissions for variant NM_001083961.2(WDR62):c.2529C>T (p.Asp843=)

gnomAD frequency: 0.00073  dbSNP: rs144697999

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000310697	SCV000195430	likely benign	not specified	2017-03-16	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000310697	SCV000332091	benign	not specified	2016-12-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000900040	SCV000515261	likely benign	not provided	2020-10-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000900040	SCV001044338	benign	not provided	2024-01-18	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001126112	SCV001285267	uncertain significance	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV000900040	SCV004141524	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	WDR62: BP4, BP7