Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000537942 | SCV000632211 | benign | Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV | 2023-11-30 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000764020 | SCV000894972 | uncertain significance | Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV | 2022-01-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003159779 | SCV003877686 | uncertain significance | Inborn genetic diseases | 2023-02-14 | criteria provided, single submitter | clinical testing | The c.6032G>A (p.R2011Q) alteration is located in exon 34 (coding exon 33) of the CACNA1H gene. This alteration results from a G to A substitution at nucleotide position 6032, causing the arginine (R) at amino acid position 2011 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Breakthrough Genomics, |
RCV004691856 | SCV005194084 | uncertain significance | not provided | criteria provided, single submitter | not provided |