Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000424060 | SCV000528852 | likely benign | not specified | 2017-11-09 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
ARUP Laboratories, |
RCV001810935 | SCV001473142 | benign | not provided | 2019-07-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002059718 | SCV002492558 | benign | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002502558 | SCV002798952 | likely benign | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures; Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant | 2022-05-11 | criteria provided, single submitter | clinical testing |