Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
3billion | RCV002250894 | SCV002521084 | pathogenic | Leber congenital amaurosis 6 | 2022-05-22 | criteria provided, single submitter | clinical testing | The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). Canonical splice site: predicted to alter splicing and result in a loss or disruption of normal protein function. Multiple pathogenic loss-of-function variants are reported downstream of the variant. Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
Rare Diseases Genetics and Genomics, |
RCV002250894 | SCV002818298 | pathogenic | Leber congenital amaurosis 6 | 2022-07-25 | no assertion criteria provided | research |