Submissions for variant NM_203447.4(DOCK8):c.1587C>G (p.Pro529=)

gnomAD frequency: 0.00296  dbSNP: rs146289269

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001704508	SCV000532818	likely benign	not provided	2019-01-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV005090841	SCV000645685	benign	not provided	2025-01-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000543076	SCV001332423	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.
CeGaT Center for Human Genetics Tuebingen	RCV001704508	SCV005093237	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	DOCK8: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV001704508	SCV005223006	likely benign	not provided		criteria provided, single submitter	not provided