Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000217102 | SCV000271117 | likely benign | not specified | 2014-12-30 | criteria provided, single submitter | clinical testing | p.Leu30339Leu in exon 302 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. This variant has also been identified in ( 6/67536) of European chromosomes by the Exome Aggregation Consortium (ExAC, http ://exac.broadinstitute.org). |
Eurofins Ntd Llc |
RCV000730989 | SCV000858759 | uncertain significance | not provided | 2017-12-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001089282 | SCV001010937 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-12-04 | criteria provided, single submitter | clinical testing |