Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040673 | SCV000064364 | uncertain significance | not specified | 2012-10-31 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The Val24718Ile var iant in TTN has not been reported in the literature nor previously identified by our laboratory. This variant has been identified in 1/3849 African American chr omosomes from a broad population by the NHLBI Exome Sequencing Project (http://e vs.gs.washington.edu/EVS). Valine (Val) at position 24718 is not conserved in ev olution, and multiple mammals have an isoleucine (Ile) at this position despite high nearby amino acid conservation. This and other computational analyses (bioc hemical properties, AlignGVGD, PolyPhen2, and SIFT) suggest that this variant ma y not impact the protein, though this information is not predictive enough to ru le out pathogenicity. In summary, this variant is less likely disease causing bu t additional studies are needed to fully assess its clinical significance. |
Gene |
RCV001697136 | SCV000716101 | likely benign | not provided | 2019-06-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000643291 | SCV000764978 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-12-29 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001697136 | SCV003820259 | uncertain significance | not provided | 2019-06-25 | criteria provided, single submitter | clinical testing |