Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000578519 | SCV000681357 | uncertain significance | not provided | 2018-01-18 | criteria provided, single submitter | clinical testing | The c.3178+4A>G variant in the ADAMTS2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to damage or destroy the natural splice donor site of intron 21, and is expected to cause abnormal gene splicing. The c.3178+4A>G variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.3178+4A>G as a variant of uncertain significance. |
Natera, |
RCV001829612 | SCV002081893 | uncertain significance | Ehlers-Danlos syndrome, dermatosparaxis type | 2020-02-12 | no assertion criteria provided | clinical testing |