Submissions for variant NM_025132.4(WDR19):c.1581C>A (p.Thr527=)

gnomAD frequency: 0.00847  dbSNP: rs114689848

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000253150	SCV000314581	benign	not specified		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001812737	SCV000884892	benign	not provided	2022-04-28	criteria provided, single submitter	clinical testing
Invitae	RCV001083155	SCV001021236	benign	Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001144397	SCV001304991	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.
Illumina Laboratory Services, Illumina	RCV001144398	SCV001304992	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.
Genome-Nilou Lab	RCV001144397	SCV002514772	benign	Cranioectodermal dysplasia 4	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244683	SCV002514773	benign	Nephronophthisis 13	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244684	SCV002514774	benign	Senior-Loken syndrome 8	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001144398	SCV002514776	benign	Asphyxiating thoracic dystrophy 5	2021-12-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278220	SCV002567155	benign	Connective tissue disorder	2022-05-13	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002494766	SCV002803608	likely benign	Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72	2021-07-26	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000253150	SCV003839221	benign	not specified	2022-08-16	no assertion criteria provided	clinical testing