Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000418059 | SCV000515176 | benign | not specified | 2015-07-28 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001086339 | SCV000643832 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000725633 | SCV000701053 | uncertain significance | not provided | 2017-01-19 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000725633 | SCV000884787 | likely benign | not provided | 2018-03-25 | criteria provided, single submitter | clinical testing | The c.80067C>A p.Gly26689Gly variant (rs72648230, ClinVar variant ID 378826) does not alter the amino acid sequence of the TTN protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant is listed in the genome Aggregation Database (gnomAD) with an African population frequency of 0.03% (identified on 7 out of 24,018 chromosomes), and evidence suggests that the vast majority of rare non-truncating TTN variants do not contribute to the clinical outcome of DCM (Begay 2015). Given the available evidence, the c.80067C>A variant is likely to be benign. |
Ambry Genetics | RCV002356531 | SCV002654624 | likely benign | Cardiovascular phenotype | 2019-11-27 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000418059 | SCV004122355 | likely benign | not specified | 2023-10-29 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000418059 | SCV002034525 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000725633 | SCV002037619 | likely benign | not provided | no assertion criteria provided | clinical testing |