Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172413 | SCV000055076 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000039854 | SCV000063545 | uncertain significance | not specified | 2014-07-16 | criteria provided, single submitter | clinical testing | The Arg3486Gln variant in TTN has been identified by our laboratory in 1 Caucasi an adult with DCM and in 1/594 of European chromosomes by the ClinSeq Project (d bSNP rs202017278). Computational prediction tools and conservation analysis sugg est that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significa nce of the Arg3486Gln variant is uncertain. |
Invitae | RCV000474160 | SCV000542679 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-12-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000172413 | SCV001825341 | likely benign | not provided | 2019-10-01 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000172413 | SCV003825949 | uncertain significance | not provided | 2019-07-09 | criteria provided, single submitter | clinical testing |