Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152493 | SCV000201640 | likely benign | not specified | 2014-06-10 | criteria provided, single submitter | clinical testing | Ile2414Ile in exon 31 of TTN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. |
Invitae | RCV000863614 | SCV001004306 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-07-28 | criteria provided, single submitter | clinical testing |