Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001327986 | SCV001513580 | uncertain significance | Kleefstra syndrome 2 | 2020-06-30 | criteria provided, single submitter | clinical testing | The KMT2Cvariant c.1331G>A (p.(Arg444Gln)) is found at a population frequency of 0.0004% in the gnomAD database, but not in the homozygous state. In summary and using ACMG criteria PM2, PP3, BP1 we classify this variant as variant of unknown clinical significance. |