Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
DBGen Ocular Genomics | RCV003389593 | SCV004101736 | uncertain significance | Severe early-childhood-onset retinal dystrophy | 2022-01-01 | criteria provided, single submitter | clinical testing | Class 3 ACMG Guidelines, 2015. The algorithm predictions indicate that it activates a cryptic splicing-accepting signal. |