Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000679961 | SCV000807395 | uncertain significance | Desmosterolosis | 2017-09-01 | criteria provided, single submitter | clinical testing | Likely pathogenicity based on finding it once in our laboratory in trans with a known pathogenic mutation in a 2-year-old male with global delays, hypotonia, brain anomalies, and elevated desmosterol. |