Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001720204 | SCV000525019 | likely benign | not provided | 2020-10-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002062699 | SCV002418739 | likely benign | Myofibrillar myopathy 4 | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002339031 | SCV002639973 | likely benign | Cardiovascular phenotype | 2019-06-05 | 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 |
RCV003902546 | SCV004722060 | likely benign | LDB3-related condition | 2019-03-22 | 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). |