Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001348316 | SCV001542616 | uncertain significance | Familial cold autoinflammatory syndrome 2 | 2020-01-13 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with NLRP12-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects the initiator methionine of the NLRP12 mRNA. The next in-frame methionine is located at codon 48. |
Gene |
RCV001553069 | SCV001773872 | likely pathogenic | not provided | 2022-03-11 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (gnomAD); Initiation codon variant in a gene for which loss-of-function is a known mechanism of disease |
Genome Diagnostics Laboratory, |
RCV002264275 | SCV002542474 | uncertain significance | Autoinflammatory syndrome | 2020-01-01 | criteria provided, single submitter | clinical testing |