Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000332244 | SCV000344316 | likely benign | not specified | 2016-10-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000542647 | SCV000629910 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001753747 | SCV001988123 | uncertain significance | not provided | 2023-06-27 | criteria provided, single submitter | clinical testing | In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge |
Prevention |
RCV003910033 | SCV004726670 | likely benign | PKHD1-related disorder | 2022-12-27 | 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, |
RCV000542647 | SCV001453462 | uncertain significance | Autosomal recessive polycystic kidney disease | 2017-11-14 | no assertion criteria provided | clinical testing |