Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000554315 | SCV000644289 | likely benign | Tuberous sclerosis 2 | 2023-10-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003302846 | SCV003988642 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-05-09 | criteria provided, single submitter | clinical testing | The c.1839+4T>C intronic variant results from a T to C substitution 4 nucleotides after coding exon 16 in the TSC2 gene. This nucleotide position is not 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. |