Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000525280 | SCV000632133 | benign | Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003258858 | SCV003955520 | uncertain significance | Inborn genetic diseases | 2023-06-05 | criteria provided, single submitter | clinical testing | The c.3559G>A (p.G1187R) alteration is located in exon 17 (coding exon 16) of the CACNA1H gene. This alteration results from a G to A substitution at nucleotide position 3559, causing the glycine (G) at amino acid position 1187 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |