Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000704073 | SCV000833007 | uncertain significance | Familial cold autoinflammatory syndrome 3 | 2023-10-23 | criteria provided, single submitter | clinical testing | This variant, c.3291_3293del, results in the deletion of 1 amino acid(s) of the PLCG2 protein (p.Asn1097del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with PLCG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 580512). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
Mayo Clinic Laboratories, |
RCV002261194 | SCV002541337 | uncertain significance | not provided | 2021-10-04 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002485754 | SCV002776032 | uncertain significance | Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | 2021-12-06 | criteria provided, single submitter | clinical testing |