Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000617443 | SCV000736745 | benign | Cardiovascular phenotype | 2020-07-02 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Invitae | RCV001473643 | SCV001677797 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000871034 | SCV001714049 | uncertain significance | not provided | 2020-03-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000871034 | SCV001771201 | likely benign | not provided | 2018-08-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003917981 | SCV004730347 | likely benign | TTN-related condition | 2022-09-07 | 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). |