ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.2715G>A (p.Lys905=) (rs200339331)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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 2020-11-17 criteria provided, single submitter clinical testing

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