Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000204631 | SCV000261736 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2015-10-29 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000611101 | SCV000731634 | uncertain significance | not specified | 2017-05-09 | criteria provided, single submitter | clinical testing | The p.Asn23111His variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 4/125996 European chromosomes b y the genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/; db SNP rs770512378). This variant has been reported in ClinVar (Variation ID: 22085 3) as of uncertain significance. Please note that for diseases with clinical var iability, reduced penetrance, or recessive inheritance, pathogenic variants may be present at a low frequency in the general population. Computational predictio n tools and conservation analysis suggest that the p.Asn23111His variant may imp act the protein, though this information is not predictive enough to determine p athogenicity. In summary, the clinical significance of the p.Asn23111His variant is uncertain. |
Gene |
RCV003324731 | SCV004030992 | uncertain significance | not provided | 2023-02-13 | 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 |