Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000530794 | SCV000642712 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002060328 | SCV002496620 | uncertain significance | not provided | 2022-04-01 | criteria provided, single submitter | clinical testing | TTN: PM2, BP4 |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002271526 | SCV002556181 | likely benign | not specified | 2022-06-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002404465 | SCV002707795 | likely benign | Cardiovascular phenotype | 2019-10-04 | 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. |