Submissions for variant NM_025132.4(WDR19):c.3416A>G (p.Gln1139Arg)

gnomAD frequency: 0.00065  dbSNP: rs75621037

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000354756	SCV000449428	benign	Asphyxiating thoracic dystrophy 5	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.
Illumina Laboratory Services, Illumina	RCV000276391	SCV000449429	benign	Cranioectodermal dysplasia 4	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.
Invitae	RCV000945504	SCV001091526	benign	Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8	2024-01-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000276391	SCV002514822	benign	Cranioectodermal dysplasia 4	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244833	SCV002514823	benign	Nephronophthisis 13	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244834	SCV002514824	benign	Senior-Loken syndrome 8	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000354756	SCV002514825	benign	Asphyxiating thoracic dystrophy 5	2021-12-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002502342	SCV002809415	benign	Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72	2021-10-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001727700	SCV004810474	benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	WDR19: BS1, BS2
Clinical Genetics, Academic Medical Center	RCV001700078	SCV001925298	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001727700	SCV001975241	likely benign	not provided		no assertion criteria provided	clinical testing