Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000711063 | SCV000841390 | uncertain significance | not provided | 2017-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000791737 | SCV000930998 | likely benign | Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002534491 | SCV003652921 | uncertain significance | Inborn genetic diseases | 2021-06-11 | criteria provided, single submitter | clinical testing | The c.1753C>T (p.P585S) 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 1753, causing the proline (P) at amino acid position 585 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |