Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040275 | SCV000063966 | uncertain significance | not specified | 2012-06-11 | criteria provided, single submitter | clinical testing | The Leu13040Ser variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. Computational analyses (biochemical amino ac id properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide stro ng support for or against pathogenicity. Additional information is needed to ful ly assess the clinical significance of this variant. |
Eurofins Ntd Llc |
RCV000724839 | SCV000331988 | uncertain significance | not provided | 2015-06-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000724839 | SCV000984328 | likely benign | not provided | 2020-06-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001078812 | SCV001012480 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000724839 | SCV003822274 | uncertain significance | not provided | 2023-11-03 | criteria provided, single submitter | clinical testing |