Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000658867 | SCV000780665 | likely pathogenic | not provided | 2018-07-01 | criteria provided, single submitter | clinical testing | |
Molecular Diagnostics Laboratory, |
RCV000761236 | SCV000891192 | likely pathogenic | Retinitis pigmentosa 28 | 2017-11-27 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001199815 | SCV001162512 | pathogenic | Retinitis pigmentosa | 2020-01-09 | criteria provided, single submitter | research | |
Invitae | RCV000658867 | SCV001579572 | pathogenic | not provided | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg283*) in the FAM161A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FAM161A are known to be pathogenic (PMID: 20705278, 20705279, 24651477). This variant is present in population databases (rs748847284, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with FAM161A-related conditions. ClinVar contains an entry for this variant (Variation ID: 546864). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV000761236 | SCV002785395 | likely pathogenic | Retinitis pigmentosa 28 | 2021-07-20 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000761236 | SCV004195932 | likely pathogenic | Retinitis pigmentosa 28 | 2023-09-28 | criteria provided, single submitter | clinical testing |