Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000464680 | SCV000544550 | likely benign | Tuberous sclerosis 2 | 2023-08-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003298478 | SCV003988648 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-04-17 | criteria provided, single submitter | clinical testing | The c.1840-3C>T intronic variant results from a C to T substitution 3 nucleotides upstream from coding exon 17 in the TSC2 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; however direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |