Submissions for variant NM_025132.4(WDR19):c.1595T>C (p.Ile532Thr)

gnomAD frequency: 0.00019  dbSNP: rs749672769

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000284017	SCV000449392	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina	RCV000320324	SCV000449393	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000653252	SCV000775128	benign	Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8	2024-01-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000284017	SCV002514777	benign	Cranioectodermal dysplasia 4	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244827	SCV002514778	benign	Nephronophthisis 13	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244828	SCV002514779	benign	Senior-Loken syndrome 8	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000320324	SCV002514780	benign	Asphyxiating thoracic dystrophy 5	2021-12-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004544651	SCV004757431	likely benign	WDR19-related disorder	2022-10-11	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).