Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001430897 | SCV001633645 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2022-04-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002442865 | SCV002753830 | uncertain significance | Cardiovascular phenotype | 2021-06-27 | criteria provided, single submitter | clinical testing | The c.30653-4G>A intronic variant results from a G to A substitution 4 nucleotides upstream from coding exon 123 in the TTN gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002501317 | SCV002806351 | likely benign | 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 | 2021-10-13 | criteria provided, single submitter | clinical testing |