Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000642855 | SCV000764542 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000997419 | SCV001152799 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BP7 |
Gene |
RCV000997419 | SCV001822535 | likely benign | not provided | 2020-12-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002369694 | SCV002624322 | likely benign | Cardiovascular phenotype | 2019-11-01 | 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. |
Prevention |
RCV003945622 | SCV004761713 | likely benign | TTN-related condition | 2019-10-28 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |