Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000226834 | SCV000286727 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2015-11-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002433964 | SCV002748607 | uncertain significance | Cardiovascular phenotype | 2019-12-12 | criteria provided, single submitter | clinical testing | The p.A9796T variant (also known as c.29386G>A), located in coding exon 117 of the TTN gene, results from a G to A substitution at nucleotide position 29386. The alanine at codon 9796 is replaced by threonine, an amino acid with similar 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. |
Fulgent Genetics, |
RCV002478850 | SCV002787881 | 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 | 2021-08-11 | criteria provided, single submitter | clinical testing |