Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156473 | SCV000206192 | likely benign | not specified | 2014-05-01 | criteria provided, single submitter | clinical testing | Asp30851Asp in exon 306 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. |
Invitae | RCV000474266 | SCV000555136 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001719982 | SCV000730439 | likely benign | not provided | 2021-03-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000620082 | SCV000735258 | likely benign | Cardiovascular phenotype | 2016-01-06 | 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. |
ARUP Laboratories, |
RCV000156473 | SCV001158237 | likely benign | not specified | 2019-03-01 | criteria provided, single submitter | clinical testing |