Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000599138 | SCV000710532 | pathogenic | not provided | 2018-02-28 | criteria provided, single submitter | clinical testing | The S234X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed in large population cohorts (Lek et al., 2016). S234X is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In summary, we consider this variant to be pathogenic. |
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV001029993 | SCV001192795 | likely pathogenic | Waardenburg syndrome type 2A | 2019-10-28 | no assertion criteria provided | clinical testing |