Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000422642 | SCV000517531 | benign | not specified | 2016-02-03 | 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. |
Mendelics | RCV000990377 | SCV001141335 | benign | Lower motor neuron syndrome with late-adult onset | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001518488 | SCV001727186 | benign | Lower motor neuron syndrome with late-adult onset; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Autosomal dominant mitochondrial myopathy with exercise intolerance | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001578883 | SCV001806236 | benign | Autosomal dominant mitochondrial myopathy with exercise intolerance | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001578884 | SCV001806237 | benign | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000990377 | SCV001806238 | benign | Lower motor neuron syndrome with late-adult onset | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000422642 | SCV001807363 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000422642 | SCV001920884 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000422642 | SCV001951247 | benign | not specified | no assertion criteria provided | clinical testing |