Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000592399 | SCV000703508 | uncertain significance | not provided | 2016-12-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001088951 | SCV001001327 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003915703 | SCV004737281 | likely benign | PKHD1-related condition | 2021-04-01 | 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, |
RCV001088951 | SCV001463328 | likely benign | Autosomal recessive polycystic kidney disease | 2020-09-16 | no assertion criteria provided | clinical testing |