Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000400723 | SCV000449380 | uncertain significance | Jeune thoracic dystrophy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000298705 | SCV000449381 | uncertain significance | Cranioectodermal dysplasia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001850849 | SCV002145148 | uncertain significance | Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 | 2022-09-19 | criteria provided, single submitter | clinical testing | This sequence change affects codon 416 of the WDR19 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the WDR19 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs772867899, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with WDR19-related conditions. ClinVar contains an entry for this variant (Variation ID: 348732). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Fulgent Genetics, |
RCV002480216 | SCV002775441 | uncertain significance | Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 | 2021-08-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004021962 | SCV004979258 | likely benign | Inborn genetic diseases | 2023-10-20 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |