Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000222340 | SCV000271012 | likely benign | not specified | 2016-01-11 | criteria provided, single submitter | clinical testing | p.Lys10010Lys variant in exon 140 of TTN: This variant is not expected to have c linical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1/66630 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org) |
Invitae | RCV001404093 | SCV001605982 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-08-24 | criteria provided, single submitter | clinical testing |