Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000600344 | SCV000724481 | likely benign | not specified | 2017-11-08 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Eurofins Ntd Llc |
RCV000731779 | SCV000859629 | uncertain significance | not provided | 2018-02-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001391686 | SCV001593310 | likely benign | Nephronophthisis | 2023-12-22 | criteria provided, single submitter | clinical testing |