Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040350 | SCV000064041 | uncertain significance | not specified | 2015-07-06 | criteria provided, single submitter | clinical testing | The p.Ser15463Gly variant in TTN has been previously identified by our laborator y in 1 child with DCM who also carried a likely pathogenic variant in this gene. It has also been identified in 1/712 chromosomes of unspecified ancestry by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs397 517615). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinica l significance of the p.Ser15463Gly variant is uncertain. |
Invitae | RCV000227392 | SCV000286713 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-11-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001588859 | SCV001824457 | uncertain significance | not provided | 2019-11-14 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; This variant is associated with the following publications: (PMID: 24503780) |
Revvity Omics, |
RCV001588859 | SCV003824896 | uncertain significance | not provided | 2019-05-15 | criteria provided, single submitter | clinical testing |