Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000535944 | SCV000653013 | benign | Lower motor neuron syndrome with late-adult onset; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Autosomal dominant mitochondrial myopathy with exercise intolerance | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001712518 | SCV001944543 | benign | not provided | 2018-10-01 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 29519717) |