Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000643151 | SCV000764838 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-11-22 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV002051871 | SCV002319004 | uncertain significance | not provided | 2022-03-14 | 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; This variant is associated with the following publications: (PMID: 23975875) |
| Ambry Genetics | RCV002406401 | SCV002716566 | uncertain significance | Cardiovascular phenotype | 2020-02-26 | criteria provided, single submitter | clinical testing | The p.H5847Q variant (also known as c.17541T>A), located in coding exon 69 of the TTN gene, results from a T to A substitution at nucleotide position 17541. The histidine at codon 5847 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Revvity Omics, |
RCV002051871 | SCV003819805 | uncertain significance | not provided | 2022-12-09 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003323652 | SCV004029878 | uncertain significance | not specified | 2023-07-16 | criteria provided, single submitter | clinical testing |