Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000873548 | SCV001015559 | benign | Autosomal recessive polycystic kidney disease | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002507525 | SCV002795632 | benign | Polycystic kidney disease 4 | 2022-01-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003975456 | SCV004788849 | likely benign | PKHD1-related condition | 2021-08-25 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV000873548 | SCV001463518 | uncertain significance | Autosomal recessive polycystic kidney disease | 2017-05-08 | no assertion criteria provided | clinical testing |