Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704499 | SCV000532145 | likely benign | not provided | 2021-03-03 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000434608 | SCV000616147 | likely benign | not specified | 2016-08-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000643690 | SCV000765377 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002348223 | SCV002646026 | likely benign | Cardiovascular phenotype | 2022-02-16 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Fulgent Genetics, |
RCV002481327 | SCV002804293 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2021-11-02 | criteria provided, single submitter | clinical testing |