Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152344 | SCV000201246 | likely benign | not specified | 2014-11-03 | criteria provided, single submitter | clinical testing | p.Glu14108Glu in exon 215 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. |
Invitae | RCV001399642 | SCV001601432 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-05-16 | criteria provided, single submitter | clinical testing |