Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000601310 | SCV000728722 | benign | not specified | 2017-09-13 | 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. |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000612733 | SCV000745463 | benign | Saldino-Mainzer syndrome | 2015-09-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000612733 | SCV001723354 | benign | Saldino-Mainzer syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001544452 | SCV001763497 | benign | Retinitis pigmentosa 80 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000612733 | SCV001763498 | benign | Saldino-Mainzer syndrome | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000612733 | SCV000733491 | benign | Saldino-Mainzer syndrome | no assertion criteria provided | clinical testing |