Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000635016 | SCV000756394 | benign | Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV | 2023-05-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002529828 | SCV003731227 | uncertain significance | Inborn genetic diseases | 2021-08-17 | criteria provided, single submitter | clinical testing | The c.1390G>A (p.V464M) alteration is located in exon 9 (coding exon 8) of the CACNA1H gene. This alteration results from a G to A substitution at nucleotide position 1390, causing the valine (V) at amino acid position 464 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |