Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001698016 | SCV000725022 | likely benign | not provided | 2020-01-21 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000768995 | SCV000900368 | likely benign | Cardiomyopathy | 2016-08-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001409870 | SCV001611904 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002431794 | SCV002729708 | likely benign | Cardiovascular phenotype | 2021-05-26 | 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 |
RCV003980169 | SCV004798116 | likely benign | TTN-related condition | 2019-04-16 | 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). |