Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000726966 | SCV000525778 | likely benign | not provided | 2019-05-06 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000424202 | SCV000613085 | likely benign | not specified | 2016-08-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000558527 | SCV000654168 | likely benign | Desmin-related myofibrillar myopathy | 2024-01-01 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000726966 | SCV000704555 | uncertain significance | not provided | 2016-12-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002418290 | SCV002678870 | likely benign | Cardiovascular phenotype | 2018-05-09 | 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 |
RCV003912701 | SCV004733019 | likely benign | DES-related condition | 2023-12-19 | 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). |