Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001485194 | SCV001689624 | likely benign | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000923208 | SCV001812660 | likely benign | not provided | 2020-11-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003985459 | SCV004724785 | uncertain significance | CACNA1A-related disorder | 2024-01-17 | criteria provided, single submitter | clinical testing | The CACNA1A c.6782G>A variant is predicted to result in the amino acid substitution p.Gly2261Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0046% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |