Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152358 | SCV000201277 | uncertain significance | not specified | 2013-10-14 | criteria provided, single submitter | clinical testing | The Pro10840Ser variant in TTN has not been previously reported in individuals w ith cardiomyopathy . This variant is a deletion and insertion of an equal number of bases that results in a missense change at the protein level, but does not a lter the protein reading frame. Computational analyses (biochemical amino acid p roperties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong s upport for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of this variant. |
Invitae | RCV000643253 | SCV000764940 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-09-18 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000770049 | SCV000901475 | uncertain significance | Cardiomyopathy | 2015-09-21 | criteria provided, single submitter | clinical testing |