Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040010 | SCV000063701 | uncertain significance | not specified | 2012-02-14 | criteria provided, single submitter | clinical testing | The Glu6992Lys variant (TTN) has been identified in 1/6626 European American chr omosomes by the NHLBI Exome Sequencing Project in a broad population (http://evs .gs.washington.edu/EVS). Computational analyses (biochemical amino acid properti es, conservation, AlignGVGD, and SIFT) do not provide strong support for or agai nst an impact to the protein. Additional information is needed to fully assess t he clinical significance of the Glu6992Lys variant. |
Invitae | RCV000476628 | SCV000543020 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-11-08 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000713996 | SCV000844653 | uncertain significance | not provided | 2018-05-09 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000713996 | SCV003822152 | uncertain significance | not provided | 2020-08-25 | criteria provided, single submitter | clinical testing |