Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000082064 | SCV000114003 | uncertain significance | not provided | 2013-07-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001083076 | SCV000632091 | likely benign | Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000082064 | SCV001149624 | uncertain significance | not provided | 2016-06-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003952524 | SCV004769823 | likely benign | CACNA1H-related condition | 2022-05-02 | 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). |