Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV000767953 | SCV000898658 | uncertain significance | Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Charcot-Marie-Tooth disease axonal type 2O; Intellectual disability, autosomal dominant 13 | 2021-03-30 | criteria provided, single submitter | clinical testing | DYNC1H1 NM_001376 exon 65 p.Thr4028Thr (c.12084C>G): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Invitae | RCV002533927 | SCV003288237 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2022-05-21 | criteria provided, single submitter | clinical testing |