Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001811019 | SCV000605598 | uncertain significance | not provided | 2020-07-02 | criteria provided, single submitter | clinical testing | The WDR19 c.3308G>A; p.Arg1103Gln variant (rs567310076), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 440411). This variant is found in the African population with an allele frequency of 0.070% (16/22970 alleles) in the Genome Aggregation Database. The arginine at codon 1103 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Arg1103Gln variant is uncertain at this time. |
Invitae | RCV001227801 | SCV001400176 | likely benign | Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 | 2023-11-03 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002481645 | SCV002791264 | uncertain significance | Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 | 2022-03-09 | criteria provided, single submitter | clinical testing |