Submissions for variant NM_025132.4(WDR19):c.1357-10T>C

gnomAD frequency: 0.01827  dbSNP: rs16995189

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000249388	SCV000314580	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000274480	SCV000449386	benign	Cranioectodermal dysplasia 4	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 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	RCV000329507	SCV000449387	benign	Asphyxiating thoracic dystrophy 5	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000549539	SCV000656612	benign	Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001610735	SCV001158774	benign	not provided	2023-10-11	criteria provided, single submitter	clinical testing
GeneDx	RCV001610735	SCV001833879	benign	not provided	2021-05-06	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000274480	SCV002514768	benign	Cranioectodermal dysplasia 4	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244681	SCV002514769	benign	Nephronophthisis 13	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244682	SCV002514770	benign	Senior-Loken syndrome 8	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000329507	SCV002514771	benign	Asphyxiating thoracic dystrophy 5	2021-12-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278219	SCV002567154	benign	Connective tissue disorder	2022-05-13	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000249388	SCV001932075	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001610735	SCV001973507	likely benign	not provided		no assertion criteria provided	clinical testing