Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000601004 | SCV000712956 | likely benign | not specified | 2017-02-10 | criteria provided, single submitter | clinical testing | p.Glu18739Glu in exon 256 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 | RCV001430549 | SCV001633291 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-05-22 | criteria provided, single submitter | clinical testing |