Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000535499 | SCV000643755 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-12-22 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000598338 | SCV000701383 | uncertain significance | not provided | 2017-06-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000598338 | SCV001995299 | 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; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002350289 | SCV002648614 | uncertain significance | Cardiovascular phenotype | 2019-01-28 | criteria provided, single submitter | clinical testing | The p.W18326R variant (also known as c.54976T>C), located in coding exon 153 of the TTN gene, results from a T to C substitution at nucleotide position 54976. The tryptophan at codon 18326 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly 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. |
Revvity Omics, |
RCV000598338 | SCV003825945 | uncertain significance | not provided | 2019-07-03 | criteria provided, single submitter | clinical testing |