Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000591436 | SCV000704418 | uncertain significance | not provided | 2017-01-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001088777 | SCV000764600 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003160020 | SCV003860951 | likely benign | Cardiovascular phenotype | 2023-02-16 | 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 |
RCV000591436 | SCV004148150 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BP7 |
Prevention |
RCV003962678 | SCV004782508 | likely benign | TTN-related condition | 2020-12-31 | 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). |