Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001208736 | SCV001380141 | benign | Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV | 2022-10-11 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002504246 | SCV002815975 | uncertain significance | Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV | 2022-04-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004033741 | SCV004914959 | uncertain significance | Inborn genetic diseases | 2021-07-14 | criteria provided, single submitter | clinical testing | The c.6385G>A (p.E2129K) alteration is located in exon 35 (coding exon 34) of the CACNA1H gene. This alteration results from a G to A substitution at nucleotide position 6385, causing the glutamic acid (E) at amino acid position 2129 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |