Submissions for variant NM_025132.4(WDR19):c.2715G>A (p.Lys905=)

gnomAD frequency: 0.00099  dbSNP: rs200339331

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000271288	SCV000340213	uncertain significance	not provided	2016-03-22	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000271288	SCV000884904	likely benign	not provided	2018-05-18	criteria provided, single submitter	clinical testing	The WDR19 c.2715G>A; p.Lys905Lys variant (rs200339331), to our knowledge, is not described in the medical literature but is reported as a variant of uncertain significance in ClinVar (Variation ID: 286679) and observed in the African population at an overall frequency of 0.34% (81/23972 alleles) in the Genome Aggregation Database. This is a synonymous variant at a nucleotide that is not conserved, and computational algorithms (Alamut v.2.11) predict no impact on splicing. Based on available information, this variant is considered likely benign.
Invitae	RCV001089412	SCV001098727	benign	Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8	2024-01-12	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000271288	SCV001918355	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000271288	SCV001967468	likely benign	not provided		no assertion criteria provided	clinical testing