Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001226667 | SCV001398988 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002286826 | SCV002577201 | uncertain significance | not provided | 2022-03-28 | criteria provided, single submitter | clinical testing | Observed with a second DYNC1H1 varaint in a patient with amyotrophic lateral sclerosis (Tripolszki et al., 2019); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 26100331, 25609763, 25512093, 31475037) |