Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000220410 | SCV000271006 | likely benign | not specified | 2016-01-26 | criteria provided, single submitter | clinical testing | p.Thr9270Thr in exon 116 of TTN: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. |
Invitae | RCV003765381 | SCV004593843 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-12-09 | criteria provided, single submitter | clinical testing |