Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000311356 | SCV000334377 | uncertain significance | not provided | 2017-10-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002059116 | SCV002483998 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000311356 | SCV002820579 | uncertain significance | not provided | 2023-01-09 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |