Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000176124 | SCV000227726 | uncertain significance | not provided | 2017-07-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001082977 | SCV001002597 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000176124 | SCV001985900 | uncertain significance | not provided | 2020-01-30 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Natera, |
RCV001082977 | SCV001463509 | uncertain significance | Autosomal recessive polycystic kidney disease | 2018-05-21 | no assertion criteria provided | clinical testing |