Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000007937 | SCV001135475 | likely benign | Short stature-pituitary and cerebellar defects-small sella turcica syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Laboratory of Medical Genetics, |
RCV000007937 | SCV001976932 | likely pathogenic | Short stature-pituitary and cerebellar defects-small sella turcica syndrome | 2021-10-01 | criteria provided, single submitter | clinical testing | PS3, PM2, PP3, PP4, PP5 |
OMIM | RCV000007937 | SCV000028142 | pathogenic | Short stature-pituitary and cerebellar defects-small sella turcica syndrome | 2008-03-01 | no assertion criteria provided | literature only |