Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000276337 | SCV000333841 | uncertain significance | not provided | 2015-08-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001393526 | SCV001595192 | likely benign | Glycogen storage disease, type II | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001393526 | SCV001810190 | uncertain significance | Glycogen storage disease, type II | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003165725 | SCV003857456 | likely benign | Cardiovascular phenotype | 2022-11-20 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Prevention |
RCV003982981 | SCV004800152 | likely benign | GAA-related condition | 2022-01-09 | 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). |