Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001080535 | SCV000286471 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000727752 | SCV000515072 | likely benign | not provided | 2021-05-14 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000417639 | SCV000710972 | likely benign | not specified | 2016-05-27 | criteria provided, single submitter | clinical testing | p.Asp60Asp in exon 3 of TTN: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 9/10406 African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs144750850). |
Eurofins Ntd Llc |
RCV000727752 | SCV000855130 | uncertain significance | not provided | 2017-09-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002408962 | SCV002711938 | likely benign | Cardiovascular phenotype | 2019-05-08 | 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. |