Submissions for variant NM_025132.4(WDR19):c.2363+7C>T

gnomAD frequency: 0.00066  dbSNP: rs190180293

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000946201	SCV001092309	likely benign	Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8	2023-11-28	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001818932	SCV002064871	likely benign	not specified	2020-10-23	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002488026	SCV002796550	likely benign	Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72	2022-04-20	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001573074	SCV005257290	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573074	SCV001798408	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573074	SCV001971675	likely benign	not provided		no assertion criteria provided	clinical testing