Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000829321 | SCV000971037 | benign | not provided | 2018-06-14 | 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. |
Genome- |
RCV001815441 | SCV002062320 | benign | Arthrogryposis multiplex congenita 3, myogenic type | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001815482 | SCV002062321 | benign | Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001815440 | SCV002062322 | benign | Autosomal recessive ataxia, Beauce type | 2021-07-15 | criteria provided, single submitter | clinical testing |