Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000480226 | SCV000573940 | uncertain significance | not provided | 2019-06-03 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation as the last 2 amino acids are lost and replaced with 12] incorrect amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; Has not been previously published as pathogenic or benign to our knowledge |