Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mayo Clinic Laboratories, |
RCV000660401 | SCV000782483 | uncertain significance | Epilepsy, childhood absence, susceptibility to, 6 | 2016-09-06 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001205379 | SCV001376632 | benign | Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002485505 | SCV002783066 | uncertain significance | Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002530569 | SCV003700681 | uncertain significance | Inborn genetic diseases | 2023-12-19 | criteria provided, single submitter | clinical testing | The c.3425G>A (p.R1142H) 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 3425, causing the arginine (R) at amino acid position 1142 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |