Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040913 | SCV000064604 | likely benign | not specified | 2012-04-10 | criteria provided, single submitter | clinical testing | Pro31411Arg in Exon 307 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (10/3216) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS;). Pro31411Arg in Exon 307 of TTN (allele frequency = 0.3%, 10/3216) ** |
Eurofins Ntd Llc |
RCV000040913 | SCV000203663 | likely benign | not specified | 2017-02-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001719776 | SCV000237897 | likely benign | not provided | 2021-04-19 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23396983) |
Invitae | RCV000477135 | SCV000555620 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002390170 | SCV002668875 | likely benign | Cardiovascular phenotype | 2018-05-09 | 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 |
RCV003974915 | SCV004791538 | likely benign | TTN-related condition | 2020-07-14 | 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). |