Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000871836 | SCV001249862 | uncertain significance | not provided | 2019-08-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001469669 | SCV001673751 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-10-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003307638 | SCV003999494 | likely benign | Cardiovascular phenotype | 2023-03-31 | 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 |
RCV003895323 | SCV004716408 | likely benign | TTN-related condition | 2023-11-22 | 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). |