Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001084631 | SCV000632173 | benign | Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000711104 | SCV000841431 | benign | not provided | 2018-04-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000711104 | SCV002038664 | likely benign | not provided | 2021-06-17 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000711104 | SCV004133660 | benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | CACNA1H: BS1, BS2 |
Prevention |
RCV003915511 | SCV004734933 | likely benign | CACNA1H-related condition | 2021-03-30 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |