Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
3billion | RCV001808215 | SCV002058815 | uncertain significance | Polycystic kidney disease 4 | 2022-01-03 | criteria provided, single submitter | clinical testing | The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000012, PM2_M). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline. |
Fulgent Genetics, |
RCV001808215 | SCV002787268 | uncertain significance | Polycystic kidney disease 4 | 2021-07-16 | criteria provided, single submitter | clinical testing |