Submissions for variant NM_025132.4(WDR19):c.910G>A (p.Val304Ile)

gnomAD frequency: 0.03961  dbSNP: rs75964850

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000247332	SCV000314591	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000259570	SCV000449366	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	RCV000333519	SCV000449367	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.
Invitae	RCV000544386	SCV000656620	benign	Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000259570	SCV002514763	benign	Cranioectodermal dysplasia 4	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244705	SCV002514765	benign	Nephronophthisis 13	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244706	SCV002514766	benign	Senior-Loken syndrome 8	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000333519	SCV002514767	benign	Asphyxiating thoracic dystrophy 5	2021-12-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278223	SCV002567176	benign	Connective tissue disorder	2022-06-17	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000247332	SCV001932415	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000247332	SCV001969560	benign	not specified		no assertion criteria provided	clinical testing