Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000525098 | SCV000644433 | benign | Tuberous sclerosis 2 | 2023-11-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001020124 | SCV001181561 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-08-19 | criteria provided, single submitter | clinical testing | The c.337-3T>C intronic variant results from a T to C substitution 3 nucleotides upstream from coding exon 4 in the TSC2 gene. This nucleotide position is poorly 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. |
Genome- |
RCV000525098 | SCV002041056 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV003114665 | SCV003799742 | likely benign | not provided | 2022-03-28 | criteria provided, single submitter | clinical testing |