Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152174 | SCV000200903 | likely benign | not specified | 2014-03-18 | criteria provided, single submitter | clinical testing | Thr29537Thr in exon 296 of TTN: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. |
Invitae | RCV001445262 | SCV001648288 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2018-08-23 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003436959 | SCV004150215 | likely benign | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BP7 |