Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000734373 | SCV000862506 | uncertain significance | not provided | 2018-07-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001089295 | SCV001003920 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000734373 | SCV004163591 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | PKHD1: BP4, BP7 |
Prevention |
RCV003928247 | SCV004738461 | likely benign | PKHD1-related disorder | 2019-05-22 | 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, |
RCV001089295 | SCV001455241 | uncertain significance | Autosomal recessive polycystic kidney disease | 2018-05-18 | no assertion criteria provided | clinical testing |