Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156611 | SCV000206331 | likely benign | not specified | 2014-06-19 | criteria provided, single submitter | clinical testing | Leu10784Leu in exon 163 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 | RCV001440391 | SCV001643299 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2018-04-17 | criteria provided, single submitter | clinical testing |