Submissions for variant NM_025132.4(WDR19):c.3008A>G (p.Glu1003Gly)

gnomAD frequency: 0.00056  dbSNP: rs201354264

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000500098	SCV000597942	uncertain significance	not specified	2016-09-14	criteria provided, single submitter	clinical testing
Invitae	RCV000951959	SCV001098419	likely benign	Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001149215	SCV001310154	likely 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 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	RCV001149216	SCV001310155	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001532019	SCV001473056	likely benign	not provided	2020-03-17	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001532019	SCV001747393	likely benign	not provided	2022-05-01	criteria provided, single submitter	clinical testing	WDR19: BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002279282	SCV002567164	uncertain significance	Connective tissue disorder	2022-04-28	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004541573	SCV004769444	likely benign	WDR19-related disorder	2022-02-10	criteria provided, single submitter	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).