Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000040668 | SCV000051472 | benign | not specified | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000040668 | SCV000064359 | likely benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | Ile24612Thr in exon 275 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.6% (18/3170) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS). Ile24612Thr in exon 275 of TTN (allele frequency = 0.6%, 18/3170) ** |
Eurofins Ntd Llc |
RCV000040668 | SCV000228530 | likely benign | not specified | 2014-10-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000461664 | SCV000237616 | likely benign | not provided | 2020-10-01 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23861362, 24033266) |
Invitae | RCV001086543 | SCV000555017 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000620281 | SCV000737342 | likely benign | Cardiovascular phenotype | 2018-12-24 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV000768913 | SCV000900286 | benign | Cardiomyopathy | 2023-06-06 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000461664 | SCV001152721 | uncertain significance | not provided | 2017-05-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000040668 | SCV004038597 | likely benign | not specified | 2023-08-19 | criteria provided, single submitter | clinical testing | |
Laboratory of Diagnostic Genome Analysis, |
RCV000461664 | SCV001799049 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000040668 | SCV001919791 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000461664 | SCV001965407 | likely benign | not provided | no assertion criteria provided | clinical testing |