Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Division of Human Genetics, |
RCV000185574 | SCV000238474 | likely pathogenic | Aicardi Goutieres syndrome 3 | 2015-05-26 | no assertion criteria provided | research | The RNASEH2C variant (c.178dup; p.Glu60Glyfs*46) is considered likely pathogenic because it results in the premature truncation of the transcript, which may be affected by nonsense mediated decay. Another frameshift variant has been reported downstream of this position. |
Division of Human Genetics, |
RCV000185574 | SCV000536915 | likely pathogenic | Aicardi Goutieres syndrome 3 | 2015-05-26 | no assertion criteria provided | research |