Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000643119 | SCV000764806 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-11-27 | criteria provided, single submitter | clinical testing | |
| Athena Diagnostics Inc | RCV000993479 | SCV001146482 | uncertain significance | not provided | 2018-09-19 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002334124 | SCV002634682 | uncertain significance | Cardiovascular phenotype | 2019-08-02 | criteria provided, single submitter | clinical testing | The p.S15873R variant (also known as c.47619T>A), located in coding exon 153 of the TTN gene, results from a T to A substitution at nucleotide position 47619. The serine at codon 15873 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly 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. |
| Fulgent Genetics, |
RCV002477419 | SCV002782000 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2021-07-20 | criteria provided, single submitter | clinical testing | |
| Revvity Omics, |
RCV000993479 | SCV003826601 | uncertain significance | not provided | 2023-09-12 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003403480 | SCV004122031 | uncertain significance | not specified | 2023-10-23 | criteria provided, single submitter | clinical testing |