Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000635012 | SCV000756390 | benign | Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV | 2023-09-10 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003144406 | SCV003828838 | uncertain significance | Hyperaldosteronism, familial, type IV | 2022-03-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003918014 | SCV004727980 | uncertain significance | CACNA1H-related condition | 2024-02-14 | criteria provided, single submitter | clinical testing | The CACNA1H c.4835C>T variant is predicted to result in the amino acid substitution p.Ser1612Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.014% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |