Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040339 | SCV000064030 | likely benign | not specified | 2015-06-03 | criteria provided, single submitter | clinical testing | c.45298+10G>A in intron 225 of TTN: This variant is not expected to have clinica l significance because it is not located within the splice consensus sequence. I t has been identified in 0.2% (19/11480) of Latino chromosomes by the Exome Aggr egation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs370352450). |
Gene |
RCV000040339 | SCV000169293 | benign | not specified | 2013-05-24 | 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. |
Eurofins Ntd Llc |
RCV000040339 | SCV000343024 | likely benign | not specified | 2016-07-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000468834 | SCV000555596 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001336911 | SCV001530432 | uncertain significance | Myopathy, myofibrillar, 9, with early respiratory failure | 2018-06-14 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |