Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
HSP Biomedical Diagnostics Department, |
RCV000677737 | SCV000788258 | pathogenic | Ataxia-telangiectasia syndrome | 2018-07-26 | no assertion criteria provided | clinical testing | The variant NG_009830.1:c.(2466+1_2467-1)_(8850+1_8851-1)dup has been observed in a 4-year-old female together with the variant NM_000051.3:c.6899G>C (zygosity: compound heterozygote). The girl presents ataxia-telangiectasia phenotype. |