Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Applied Genomics, |
RCV001731169 | SCV001981606 | pathogenic | Retinitis pigmentosa | 2021-10-20 | criteria provided, single submitter | clinical testing | additional variant: c.9053T>G, p.Leu3018Trp, classified as VUS |