Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000635041 | SCV000756419 | benign | Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV | 2022-08-22 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV001336540 | SCV001529946 | uncertain significance | Epilepsy, childhood absence, susceptibility to, 6 | 2018-05-15 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
| Fulgent Genetics, |
RCV002492967 | SCV002792839 | uncertain significance | Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV | 2021-07-21 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002529831 | SCV003751318 | uncertain significance | Inborn genetic diseases | 2021-09-17 | criteria provided, single submitter | clinical testing | The c.1768C>T (p.R590W) alteration is located in exon 9 (coding exon 8) of the CACNA1H gene. This alteration results from a C to T substitution at nucleotide position 1768, causing the arginine (R) at amino acid position 590 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |