Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152355 | SCV000201274 | uncertain significance | not specified | 2013-12-05 | criteria provided, single submitter | clinical testing | The Arg11213His variant in TTN has not been reported in individuals with cardiom yopathy, but has been identified in 0.01% (1/8208) of European American chromoso mes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). Co mputational analyses (biochemical amino acid properties, conservation, AlignGVGD , PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is needed to fully assess the clinical sign ificance of the Arg11213His variant. |
Invitae | RCV000643521 | SCV000765208 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-11-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003114300 | SCV003798891 | uncertain significance | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge |
Revvity Omics, |
RCV003114300 | SCV003819135 | uncertain significance | not provided | 2020-10-05 | criteria provided, single submitter | clinical testing |