Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001920466 | SCV002182947 | pathogenic | Familial hemophagocytic lymphohistiocytosis 3 | 2024-01-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu603*) in the UNC13D gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in UNC13D are known to be pathogenic (PMID: 14622600). This variant is present in population databases (rs755348845, gnomAD 0.005%). This premature translational stop signal has been observed in individual(s) with hemophagocytic lymphohistiocytosis (PMID: 21248318). ClinVar contains an entry for this variant (Variation ID: 1411105). For these reasons, this variant has been classified as Pathogenic. |
Genome Diagnostics Laboratory, |
RCV002264425 | SCV002543141 | likely pathogenic | Autoinflammatory syndrome | 2019-09-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001920466 | SCV002800799 | likely pathogenic | Familial hemophagocytic lymphohistiocytosis 3 | 2022-04-14 | criteria provided, single submitter | clinical testing |