Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001942001 | SCV002235059 | pathogenic | Familial hemophagocytic lymphohistiocytosis 3 | 2023-05-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1454697). This premature translational stop signal has been observed in individual(s) with familial haemophagocytic lymphohistiocytosis (PMID: 15466010, 17993578, 29357941). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs769243366, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg214*) 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). |
Mendelics | RCV001942001 | SCV002519940 | pathogenic | Familial hemophagocytic lymphohistiocytosis 3 | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002264436 | SCV002543191 | pathogenic | Autoinflammatory syndrome | 2019-06-01 | criteria provided, single submitter | clinical testing |