Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000254244 | SCV000311126 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000844267 | SCV000986316 | benign | not provided | 2018-06-16 | 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- |
RCV001775746 | SCV002014304 | benign | Fetal akinesia deformation sequence 1 | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001775747 | SCV002014305 | benign | Congenital myasthenic syndrome 9 | 2021-09-05 | criteria provided, single submitter | clinical testing |