Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000517506 | SCV000615168 | uncertain significance | not specified | 2017-06-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001755772 | SCV001985420 | uncertain significance | not provided | 2020-06-11 | criteria provided, single submitter | clinical testing | Identified in a patient with adult-onset ALS/FTD who also had a C9orf72 repeat expansion that may have been responsible for the phenotype in published literature (Kenna et al., 2013); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28413711, 23881933) |
Genome- |
RCV003233673 | SCV003931492 | uncertain significance | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003233674 | SCV003931493 | uncertain significance | Amyotrophic lateral sclerosis type 4 | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003766933 | SCV004607518 | likely benign | Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2023-05-02 | criteria provided, single submitter | clinical testing |