Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000272436 | SCV000332077 | benign | not specified | 2015-06-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000533130 | SCV000626720 | benign | Glycogen storage disease type III | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001540741 | SCV001758659 | likely benign | not provided | 2020-03-02 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000533130 | SCV002055066 | benign | Glycogen storage disease type III | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001540741 | SCV004185029 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | AGL: BP4, BS2 |
Prevention |
RCV003955425 | SCV004780141 | likely benign | AGL-related condition | 2019-08-15 | 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). |