Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Baylor Genetics | RCV000680014 | SCV000807453 | uncertain significance | Koolen-de Vries syndrome | 2017-09-01 | criteria provided, single submitter | clinical testing | Likely pathogenicity based on finding it once in our laboratory in a 5-year-old female with developmental delay, speech apraxia, hypotonia, dysmorphisms, macrocephaly, hyperextensibility, brain aabnormalities, microophthalmia, scoliosis, heart & kidney defects. However, inheritance was not determined, and of note, the promoter and 5' exons of KANSL1 can be partially duplicated in some individuals. Exome and Sanger data could not distinguish if this change is located in the real KANSL1 gene or the duplicated copy of the gene |