Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040627 | SCV000064318 | likely benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | Asp2327Asp in exon 30 of TTN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and it is not located w ithin the splice consensus sequence. Asp2327Asp in exon 30 of TTN (allele frequ ency = n/a) |
Invitae | RCV000920569 | SCV001065940 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-07-17 | criteria provided, single submitter | clinical testing |