Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000726382 | SCV000237926 | likely benign | not provided | 2020-12-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000467913 | SCV000542332 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-12-22 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000726382 | SCV000701382 | uncertain significance | not provided | 2017-06-02 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000726382 | SCV001152583 | likely benign | not provided | 2022-05-01 | criteria provided, single submitter | clinical testing | TTN: BP4 |
Athena Diagnostics Inc | RCV000595276 | SCV001477103 | benign | not specified | 2020-06-02 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000726382 | SCV001715742 | uncertain significance | not provided | 2023-05-17 | criteria provided, single submitter | clinical testing | BP4 |
Ambry Genetics | RCV002399690 | SCV002670573 | likely benign | Cardiovascular phenotype | 2022-02-17 | 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. |
Revvity Omics, |
RCV000726382 | SCV003826721 | uncertain significance | not provided | 2023-09-15 | criteria provided, single submitter | clinical testing |