Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001419950 | SCV001622218 | likely benign | Tuberous sclerosis 1 | 2022-07-29 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002255662 | SCV002530954 | likely benign | Hereditary cancer-predisposing syndrome | 2020-08-25 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002255662 | SCV002722695 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-06-27 | criteria provided, single submitter | clinical testing | The c.2042-5A>T intronic variant results from an A to T substitution 5 nucleotides upstream from coding exon 15 in the TSC1 gene. This nucleotide position is highly 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. |