Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000542428 | SCV000632226 | likely benign | Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV | 2023-10-13 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000764022 | SCV000894974 | uncertain significance | Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002527713 | SCV003684372 | uncertain significance | Inborn genetic diseases | 2021-06-21 | criteria provided, single submitter | clinical testing | The c.6625G>C (p.A2209P) alteration is located in exon 35 (coding exon 34) of the CACNA1H gene. This alteration results from a G to C substitution at nucleotide position 6625, causing the alanine (A) at amino acid position 2209 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |