Submissions for variant NM_025132.4(WDR19):c.1915A>G (p.Ser639Gly)

gnomAD frequency: 0.00222  dbSNP: rs150649460

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000241666	SCV000314584	likely benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000653249	SCV000775125	benign	Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8	2024-01-24	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000241666	SCV001158277	likely benign	not specified	2018-08-06	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244689	SCV002514785	benign	Cranioectodermal dysplasia 4	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244688	SCV002514787	benign	Nephronophthisis 13	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244690	SCV002514788	benign	Senior-Loken syndrome 8	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244687	SCV002514789	benign	Asphyxiating thoracic dystrophy 5	2021-12-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001729496	SCV001978047	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001729496	SCV001980633	likely benign	not provided		no assertion criteria provided	clinical testing