Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome- |
RCV001702214 | SCV001933055 | benign | Hemolytic anemia due to hexokinase deficiency | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001702215 | SCV001933056 | benign | Neurodevelopmental disorder with visual defects and brain anomalies | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001702350 | SCV001933057 | benign | Charcot-Marie-Tooth disease type 4G | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001702351 | SCV001933058 | benign | Retinitis pigmentosa 79 | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV004718957 | SCV005318905 | benign | not provided | criteria provided, single submitter | not provided |