Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002535026 | SCV003000296 | uncertain significance | Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome | 2022-08-31 | 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. ClinVar contains an entry for this variant (Variation ID: 591050). This variant has not been reported in the literature in individuals affected with AFF4-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.516_518dup, results in the insertion of 1 amino acid(s) of the AFF4 protein (p.Glu172_His173insGln), but otherwise preserves the integrity of the reading frame. |
Gharavi Laboratory, |
RCV000722226 | SCV000853357 | uncertain significance | not provided | 2018-09-16 | no assertion criteria provided | research |