Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725920 | SCV000340513 | uncertain significance | not provided | 2016-03-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000725920 | SCV000530553 | likely benign | not provided | 2021-04-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001085722 | SCV000642568 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-11-17 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001798773 | SCV002042336 | likely benign | Cardiomyopathy | 2020-12-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000725920 | SCV002047790 | likely benign | not provided | 2020-11-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002411159 | SCV002674708 | likely benign | Cardiovascular phenotype | 2020-03-18 | 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. |
Ce |
RCV000725920 | SCV004183801 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BP7 |
Prevention |
RCV003897624 | SCV004717602 | likely benign | TTN-related condition | 2021-12-02 | 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). |