Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000281605 | SCV000332144 | likely benign | not specified | 2015-06-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000867546 | SCV001008787 | benign | Autosomal recessive polycystic kidney disease | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003920037 | SCV004736885 | likely benign | PKHD1-related disorder | 2021-03-19 | 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, |
RCV000867546 | SCV002078001 | likely benign | Autosomal recessive polycystic kidney disease | 2017-11-14 | no assertion criteria provided | clinical testing |