Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001262502 | SCV001440406 | uncertain significance | Marinesco-Sjögren syndrome | 2019-01-01 | criteria provided, single submitter | clinical testing | This variant was identified as compound heterozygous. |
Athena Diagnostics Inc | RCV001287965 | SCV001474737 | uncertain significance | not provided | 2020-08-13 | criteria provided, single submitter | clinical testing |