Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040007 | SCV000063698 | likely benign | not specified | 2011-12-27 | criteria provided, single submitter | clinical testing | Ser6959Ser in exon 82 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. Ser6959Ser in exon 82 of TTN (allele frequenc y = n/a) |
Invitae | RCV002513561 | SCV003481784 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2022-07-06 | criteria provided, single submitter | clinical testing |