Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001084276 | SCV000632116 | benign | Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000711083 | SCV000841410 | benign | not provided | 2017-12-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000711083 | SCV004133640 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | CACNA1H: BP4, BP7, BS2 |
Prevention |
RCV003915509 | SCV004734539 | benign | CACNA1H-related condition | 2019-08-30 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |