Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000215695 | SCV000277826 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-07-07 | criteria provided, single submitter | clinical testing | The c.2838-5G>A intronic variant results from a G to A substitution 5 nucleotides upstream from coding exon 25 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. |
Illumina Laboratory Services, |
RCV000280090 | SCV000395618 | uncertain significance | Tuberous sclerosis syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001436828 | SCV001639672 | likely benign | Tuberous sclerosis 2 | 2022-10-17 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001436828 | SCV002039695 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |