Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000222383 | SCV000272668 | uncertain significance | not specified | 2015-03-18 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Gly14313Ala v ariant in TTN has not been previously reported in individuals with cardiomyopath y, but has been identified in 0.2% (20/8446) of East Asian chromosomes by the Ex ome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs201302 681). Computational prediction tools and conservation analysis suggest that the p.Gly14313Ala variant may impact the protein, though this information is not pre dictive enough to determine pathogenicity. In summary, while the clinical signif icance of the p.Gly14313Ala variant is uncertain, its frequency suggests that it is more likely to be benign. |
Ambry Genetics | RCV000245655 | SCV000318632 | uncertain significance | Cardiovascular phenotype | 2013-05-09 | criteria provided, single submitter | clinical testing | There is insufficient or conflicting evidence for classification of this alteration. |
Invitae | RCV000533460 | SCV000643294 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001556216 | SCV001777752 | likely benign | not provided | 2020-12-10 | criteria provided, single submitter | clinical testing |