Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001753346 | SCV002007388 | uncertain significance | not provided | 2021-02-09 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Labcorp Genetics |
RCV001868730 | SCV002135719 | likely benign | Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV | 2023-03-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002540682 | SCV003605787 | uncertain significance | Inborn genetic diseases | 2022-03-25 | criteria provided, single submitter | clinical testing | The c.1421G>A (p.R474H) alteration is located in exon 9 (coding exon 8) of the CACNA1H gene. This alteration results from a G to A substitution at nucleotide position 1421, causing the arginine (R) at amino acid position 474 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |