Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Johns Hopkins Genomics, |
RCV001250509 | SCV001425299 | uncertain significance | Polycystic kidney disease, adult type | 2020-03-04 | criteria provided, single submitter | clinical testing | This PKD1 variant (rs889547396) is rare (<0.1%) in a large population dataset (gnomAD: 3/245316 total alleles; 0.001223%; no homozygotes). Additionally, this variant has not been reported in ClinVar nor the literature, to our knowledge. Three bioinformatic tools queried predict that this substitution would be probably damaging, and the arginine residue at this position is evolutionarily conserved across all but one species assessed. Due to insufficient evidence, we consider the clinical significance of this variant to be uncertain at this time. |
Fulgent Genetics, |
RCV001250509 | SCV002783790 | uncertain significance | Polycystic kidney disease, adult type | 2022-02-02 | criteria provided, single submitter | clinical testing |