Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001696770 | SCV000533782 | likely benign | not provided | 2018-04-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002451044 | SCV002618233 | uncertain significance | Cardiovascular phenotype | 2021-07-13 | criteria provided, single submitter | clinical testing | The c.3386-3T>C intronic variant results from a T to C substitution 3 nucleotides upstream from coding exon 20 in the TTN gene. This nucleotide position is well 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. |