Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001811471 | SCV000884903 | uncertain significance | not provided | 2019-10-28 | criteria provided, single submitter | clinical testing | The WDR19 c.3707G>A; p.Gly1236Glu variant (rs141039852), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 618492). This variant is found in the African population with an overall allele frequency of 0.16% (38/24188 alleles, including one homozygote) in the Genome Aggregation Database. The glycine at codon 1236 is weakly conserved, but computational analyses (SIFT: damaging, PolyPhen-2: benign) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Gly1236Glu variant is uncertain at this time. |
Invitae | RCV001079233 | SCV001025823 | likely benign | Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 | 2023-12-12 | criteria provided, single submitter | clinical testing |