Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001082991 | SCV000629920 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000597437 | SCV000707899 | uncertain significance | not provided | 2017-04-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003925601 | SCV004739160 | likely benign | PKHD1-related condition | 2019-04-15 | 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, |
RCV001082991 | SCV002078087 | likely benign | Autosomal recessive polycystic kidney disease | 2017-05-11 | no assertion criteria provided | clinical testing |