Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155751 | SCV000205462 | likely benign | not specified | 2015-10-01 | criteria provided, single submitter | clinical testing | p.Lys5757Lys in exon 69 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 3/11468 Latino chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg). |
Eurofins Ntd Llc |
RCV000725659 | SCV000338439 | uncertain significance | not provided | 2016-01-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000642848 | SCV000764535 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-26 | criteria provided, single submitter | clinical testing |