Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001585395 | SCV001819290 | uncertain significance | not provided | 2020-12-29 | 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; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002368614 | SCV002661787 | uncertain significance | Cardiovascular phenotype | 2018-07-30 | criteria provided, single submitter | clinical testing | The p.S2262Y variant (also known as c.6785C>A), located in coding exon 28 of the TTN gene, results from a C to A substitution at nucleotide position 6785. The serine at codon 2262 is replaced by tyrosine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002476897 | SCV002782832 | 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 | 2021-10-04 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001585395 | SCV003827385 | uncertain significance | not provided | 2020-07-09 | criteria provided, single submitter | clinical testing |