Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000802201 | SCV000942020 | benign | Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV | 2023-08-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002537143 | SCV003745350 | uncertain significance | Inborn genetic diseases | 2022-07-13 | criteria provided, single submitter | clinical testing | The c.3806G>A (p.R1269H) alteration is located in exon 18 (coding exon 17) of the CACNA1H gene. This alteration results from a G to A substitution at nucleotide position 3806, causing the arginine (R) at amino acid position 1269 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |