Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156435 | SCV000206153 | likely benign | not specified | 2014-03-13 | criteria provided, single submitter | clinical testing | Gln5026Gln in exon 61 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 | RCV002515020 | SCV003504507 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-11-14 | criteria provided, single submitter | clinical testing |