Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000245822 | SCV000318755 | likely benign | Cardiovascular phenotype | 2013-06-10 | 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. |
Gene |
RCV001722370 | SCV000729874 | likely benign | not provided | 2021-05-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002518688 | SCV003463110 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001722370 | SCV004148136 | likely benign | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BP7 |