Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000074485 | SCV000807248 | pathogenic | Schaaf-Yang syndrome | 2017-09-01 | criteria provided, single submitter | clinical testing | This frameshift variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory in an 8-year-old male with intelectual disability, autistic features, infantile hypotonia, almond-shaped eyes, morbid obesity, myopia, cryptorchidism. This patient has been reported (PMID:24076603). |
OMIM | RCV000074485 | SCV000108570 | pathogenic | Schaaf-Yang syndrome | 2013-11-01 | no assertion criteria provided | literature only |