Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000592255 | SCV000709644 | uncertain significance | not provided | 2017-06-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001428619 | SCV001631320 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003900360 | SCV004717206 | likely benign | PKHD1-related disorder | 2021-03-29 | 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). |