Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Medicine Center, |
RCV000782361 | SCV000920882 | pathogenic | X-linked Alport syndrome | 2019-06-12 | criteria provided, single submitter | clinical testing | A family with 5 affected individuals across 3 generations. Four individuals tested and found to carry variant. Early onset even in female - 2 years of age. |