Submissions for variant NM_153252.5(BRWD3):c.33G>A (p.Glu11=)

gnomAD frequency: 0.00422  dbSNP: rs139071237

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175993	SCV000227573	benign	not specified	2014-11-12	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000175993	SCV000246819	benign	not specified	2016-04-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000277974	SCV000482831	benign	Intellectual disability, X-linked 93	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.
Ambry Genetics	RCV002314615	SCV000848904	likely benign	Inborn genetic diseases	2015-10-19	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae	RCV000973061	SCV001120796	benign	not provided	2024-01-21	criteria provided, single submitter	clinical testing
GeneDx	RCV000973061	SCV001909933	benign	not provided	2020-04-21	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000277974	SCV002795581	likely benign	Intellectual disability, X-linked 93	2021-12-16	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000973061	SCV001799658	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000973061	SCV001968966	likely benign	not provided		no assertion criteria provided	clinical testing