Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000704480 | SCV000833431 | benign | Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV | 2022-08-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002536385 | SCV003687100 | uncertain significance | Inborn genetic diseases | 2022-07-12 | criteria provided, single submitter | clinical testing | The c.6281C>G (p.S2094W) alteration is located in exon 35 (coding exon 34) of the CACNA1H gene. This alteration results from a C to G substitution at nucleotide position 6281, causing the serine (S) at amino acid position 2094 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |