Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000225601 | SCV000282494 | uncertain significance | Rett syndrome | 2015-07-30 | criteria provided, single submitter | clinical testing | The variant of interest causes a missense change involving a non-conserved nucleotide with 3/4 in silico programs predicting a "benign" outcome, although these predictions have yet to be functionally assessed. The variant of interest was not observed in controls (ExAC, ESP, or 1000 Gs), nor has it been reported in affected individuals via publications and/or reputable databases/clinical laboratories. The variant is classified as a variant of uncertain significance until additional information becomes available. |