Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000032181 | SCV000807287 | uncertain significance | Koolen-de Vries syndrome | 2017-09-01 | criteria provided, single submitter | clinical testing | Likely pathogenicity based on finding it twice in our laboratory: in a 7-year-old male with intellectual disability, dysmorphisms, short stature, strabismus, asymmetric prominent ventricles, possible undermylination, amygdala/hippocampal dysgenesis; in a 3-year-old feale with global delays, hypotonia, dysmorphisms, short stature, microcephaly, congenital heart disease, brain & eye anomalies. 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 |
Mendelics | RCV000032181 | SCV002516587 | pathogenic | Koolen-de Vries syndrome | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000032181 | SCV000055765 | not provided | Koolen-de Vries syndrome | no assertion provided | literature only | ||
OMIM | RCV000032181 | SCV000677104 | pathogenic | Koolen-de Vries syndrome | 2018-01-02 | no assertion criteria provided | literature only |