Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000249117 | SCV000319832 | uncertain significance | Cardiovascular phenotype | 2020-08-03 | criteria provided, single submitter | clinical testing | The p.E7652D variant (also known as c.22956G>C), located in coding exon 93 of the TTN gene, results from a G to C substitution at nucleotide position 22956. The glutamic acid at codon 7652 is replaced by aspartic acid, an amino acid with highly similar 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. |
Invitae | RCV000462372 | SCV000542426 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-07-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002500951 | SCV002780218 | 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 | 2021-07-23 | criteria provided, single submitter | clinical testing |