Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001253591 | SCV001429389 | likely pathogenic | Charcot-Marie-Tooth disease type 2D | 2019-05-15 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV001260979 | SCV002516442 | pathogenic | Neuronopathy, distal hereditary motor, type 5A | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV003482320 | SCV004229654 | uncertain significance | not provided | 2023-03-31 | criteria provided, single submitter | clinical testing | Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with clinical features associated with this gene. Computational tools predict that this variant is damaging. |
Genesis Genome Database | RCV000857176 | SCV000999757 | uncertain significance | Distal spinal muscular atrophy | 2019-08-14 | no assertion criteria provided | research | |
OMIM | RCV001260979 | SCV001438351 | pathogenic | Neuronopathy, distal hereditary motor, type 5A | 2023-10-16 | no assertion criteria provided | literature only |