Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001257269 | SCV001433813 | uncertain significance | Global developmental delay; Short stature; Single transverse palmar crease; Facial asymmetry; Strabismus; Decreased body weight; Ventricular septal defect | 2019-10-27 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence on this varinat's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP2,PP3. This variant was detected in heterozygous state. |
Invitae | RCV002069366 | SCV002408388 | likely benign | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2024-01-02 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV003738027 | SCV004565051 | likely benign | not provided | 2023-03-23 | criteria provided, single submitter | clinical testing |