Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000474791 | SCV000542997 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-12-01 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV001662420 | SCV001880250 | likely benign | not specified | 2020-10-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002460076 | SCV002618451 | likely benign | Cardiovascular phenotype | 2020-07-21 | 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, |
RCV003139641 | SCV003827323 | uncertain significance | not provided | 2019-03-12 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003139641 | SCV004148214 | uncertain significance | not provided | 2022-06-01 | criteria provided, single submitter | clinical testing | TTN: PM2 |