Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000003792 | SCV000807330 | pathogenic | Kleefstra syndrome 1 | 2017-09-01 | criteria provided, single submitter | clinical testing | This mutation has been previously reported as disease-causing and was found twice in our laboratory in unrelated probands: a 2-year-old male with developmental delay, hypotonia, poor coordination, microcephaly, dysmorphism; & de novo in a 1-year-old male with global delays, dysmorphisms, advanced bone age. |
Hudson |
RCV000003792 | SCV002515841 | pathogenic | Kleefstra syndrome 1 | 2022-05-06 | criteria provided, single submitter | research | ACMG codes: PVS1_Strong, PS2, PS4M, PM2 |
OMIM | RCV000003792 | SCV000023957 | pathogenic | Kleefstra syndrome 1 | 2009-09-01 | no assertion criteria provided | literature only | |
Gene |
RCV000003792 | SCV000087011 | not provided | Kleefstra syndrome 1 | no assertion provided | literature only |