Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000215930 | SCV000270985 | likely benign | not specified | 2015-07-22 | criteria provided, single submitter | clinical testing | p.Leu5668Leu in exon 68 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 | RCV002517517 | SCV003449102 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-03 | criteria provided, single submitter | clinical testing |