Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001088019 | SCV000544571 | benign | Tuberous sclerosis 2 | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000034664 | SCV000572874 | likely benign | not provided | 2021-06-07 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 22703879) |
Ambry Genetics | RCV000567483 | SCV000675594 | likely benign | Hereditary cancer-predisposing syndrome | 2019-03-18 | 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. |
Genome- |
RCV001088019 | SCV002039961 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000567483 | SCV002534063 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-11-12 | criteria provided, single submitter | curation | |
Preventiongenetics, |
RCV003407397 | SCV004114018 | uncertain significance | TSC2-related condition | 2023-09-22 | criteria provided, single submitter | clinical testing | The TSC2 c.5368G>A variant is predicted to result in the amino acid substitution p.Val1790Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.020% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-2138555-G-A), which is likely too common to be a primary cause of disease. In ClinVar, this variant has conflicting interpretations ranging from benign to uncertain (https://www.ncbi.nlm.nih.gov/clinvar/variation/41747/?new_evidence=true). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Biesecker Lab/Clinical Genomics Section, |
RCV000034664 | SCV000043547 | variant of unknown significance | not provided | 2012-07-13 | no assertion criteria provided | research | Converted during submission to Uncertain significance. |