Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040414 | SCV000064105 | uncertain significance | not specified | 2015-07-06 | criteria provided, single submitter | clinical testing | The p.Ser1711Phe variant in TTN has been previously identified by our laboratory in 1 child with DCM who also carried a likely pathogenic variant in this gene. It has also been identified in 1/66648 European chromosomes and 1/908 chromosome s of unspecified ancestry by the Exome Aggregation Consortium (ExAC, http://exac .broadinstitute.org; dbSNP rs397517641). Computational prediction tools and cons ervation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Ser1711Phe variant is uncertain. |
Invitae | RCV000229353 | SCV000286705 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-11-18 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003137566 | SCV003825937 | uncertain significance | not provided | 2019-06-14 | criteria provided, single submitter | clinical testing |