Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CHEO Genetics Diagnostic Laboratory, |
RCV000770021 | SCV000901447 | uncertain significance | Cardiomyopathy | 2016-04-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002442575 | SCV002733334 | uncertain significance | Cardiovascular phenotype | 2019-06-07 | criteria provided, single submitter | clinical testing | The p.M7525I variant (also known as c.22575G>C), located in coding exon 92 of the TTN gene, results from a G to C substitution at nucleotide position 22575. The methionine at codon 7525 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is not 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. |
Fulgent Genetics, |
RCV002500992 | SCV002809974 | 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 | 2021-09-14 | criteria provided, single submitter | clinical testing |