Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000696894 | SCV000825475 | benign | Tuberous sclerosis 2 | 2023-11-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001564684 | SCV001787883 | likely benign | not provided | 2019-10-24 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24755471) |
Genome- |
RCV000696894 | SCV002041195 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002255512 | SCV002531090 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-07-16 | criteria provided, single submitter | curation | |
Preventiongenetics, |
RCV003420235 | SCV004116380 | uncertain significance | TSC2-related condition | 2022-12-08 | criteria provided, single submitter | clinical testing | The TSC2 c.256G>A variant is predicted to result in the amino acid substitution p.Ala86Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0098% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-2103373-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |