Submissions for variant NM_203447.4(DOCK8):c.3573C>T (p.Ser1191=)

gnomAD frequency: 0.00471  dbSNP: rs13285348

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150513	SCV000197699	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Ser1191Ser in exon 29 of DOCK8: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 1.1% (92/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs13285348).
Labcorp Genetics (formerly Invitae), Labcorp	RCV005089728	SCV000645701	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000533004	SCV001329317	likely benign	Combined immunodeficiency due to DOCK8 deficiency	2018-01-12	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.
GeneDx	RCV001719931	SCV001946972	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000150513	SCV002066578	benign	not specified	2021-11-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001719931	SCV002821925	benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	DOCK8: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001719931	SCV005223022	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000150513	SCV001809395	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000150513	SCV001969794	benign	not specified		no assertion criteria provided	clinical testing