Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000730531 | SCV000858275 | uncertain significance | not provided | 2017-11-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001087302 | SCV001001214 | likely benign | Autosomal recessive polycystic kidney disease | 2023-12-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965523 | SCV004781592 | likely benign | PKHD1-related disorder | 2020-10-12 | 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). |