Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001496216 | SCV001700910 | likely benign | not provided | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001496216 | SCV001845670 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002492928 | SCV002803048 | likely benign | Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema | 2021-07-26 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001496216 | SCV004699446 | likely benign | not provided | 2024-03-01 | criteria provided, single submitter | clinical testing | CLCN2: BS2 |
Gene |
RCV000201838 | SCV000256567 | not provided | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | no assertion provided | literature only | ||
Prevention |
RCV004553100 | SCV004743413 | benign | CLCN2-related disorder | 2019-05-13 | no assertion criteria provided | 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). |