Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001327222 | SCV001518285 | uncertain significance | Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 | 2021-09-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002305599 | SCV002599661 | uncertain significance | not provided | 2022-10-24 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25411445) |
Athena Diagnostics | RCV002305599 | SCV002771133 | uncertain significance | not provided | 2022-03-31 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV002305599 | SCV005193540 | uncertain significance | not provided | criteria provided, single submitter | not provided |