Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001088103 | SCV000544487 | likely benign | Tuberous sclerosis 2 | 2024-01-06 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000567605 | SCV000675682 | likely benign | Hereditary cancer-predisposing syndrome | 2022-06-27 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Gene |
RCV000578750 | SCV000681200 | uncertain significance | not provided | 2018-10-05 | criteria provided, single submitter | clinical testing | This variant is denoted TSC2 c.3815-3C>T or IVS31-3C>T and consists of a C>T nucleotide substitution at the -3 position of intron 31 of the TSC2 gene. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. In-silico splicing models are inconsistent; therefore, in the absence of RNA or functional studies, the actual effect of this variant is unknown. TSC2 c.3815-3C>T was not observed at a significant allele frequency in large population cohorts (Lek 2016). The cytosine (C) nucleotide that is altered is conserved across species. Based on currently available information, it is unclear whether TSC2 c.3815-3C>T is pathogenic or benign. We consider it to be a variant of uncertain significance. |
| Genome- |
RCV001088103 | SCV002039785 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |