Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001055401 | SCV001219789 | benign | Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002481999 | SCV002786516 | uncertain significance | Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV | 2022-03-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002553794 | SCV003722483 | uncertain significance | Inborn genetic diseases | 2024-05-07 | criteria provided, single submitter | clinical testing | The c.6611C>T (p.A2204V) alteration is located in exon 35 (coding exon 34) of the CACNA1H gene. This alteration results from a C to T substitution at nucleotide position 6611, causing the alanine (A) at amino acid position 2204 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |