Submissions for variant NM_203447.4(DOCK8):c.709G>A (p.Glu237Lys)

gnomAD frequency: 0.02275  dbSNP: rs11789099

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150507	SCV000197693	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Glu237Lys in exon 6 of DOCK8: This variant is not expected to have clinical sign ificance because it has been identified in 3.3% (283/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs11789099).
Illumina Laboratory Services, Illumina	RCV000524882	SCV000479555	benign	Combined immunodeficiency due to DOCK8 deficiency	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV005089726	SCV000645715	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001618303	SCV001843019	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001618303	SCV005270382	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000150507	SCV001809250	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000150507	SCV001931819	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001618303	SCV002036409	likely benign	not provided		no assertion criteria provided	clinical testing