Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000699636 | SCV000828356 | likely benign | Tuberous sclerosis 2 | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002334342 | SCV002644895 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-11-09 | criteria provided, single submitter | clinical testing | The c.5161-5C>A intronic variant results from a C to A substitution 5 nucleotides upstream from coding exon 40 in the TSC2 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Gene |
RCV003231593 | SCV003929545 | uncertain significance | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. |