Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV002309543 | SCV002603420 | likely pathogenic | Achromatopsia 3 | 2022-02-03 | criteria provided, single submitter | clinical testing | NM_019098.4(CNGB3):c.1025_1026delAG(E342Vfs*25) is expected to be pathogenic in the context of CNGB3-related achromatopsia. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in CNGB3, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening. |