Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000203781 | SCV000262032 | benign | Tuberous sclerosis 2 | 2018-01-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000566784 | SCV000675471 | likely benign | Hereditary cancer-predisposing syndrome | 2018-02-02 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: Does not segregate with disease in family study (genes with incomplete penetrance),Intact protein function observed in appropriate functional assay(s),Other data supporting benign classification |
Gene |
RCV000606975 | SCV000730310 | benign | not specified | 2017-04-25 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Center for Genomics, |
RCV000768352 | SCV000899058 | uncertain significance | Lymphangiomyomatosis; Focal cortical dysplasia type II; Tuberous sclerosis 2 | 2018-06-29 | criteria provided, single submitter | clinical testing | TSC2 NM_000548.4 exon 34 p.Arg1409Trp (c.4225C>T): This variant has not been reported in the literature but is present in 11/121418 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs45517333). This variant is present in ClinVar, with several labs classifying this variant as likely benign or benign (Variation ID: 41740). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Biesecker Lab/Clinical Genomics Section, |
RCV000034657 | SCV000043540 | probably not pathogenic | not provided | 2012-07-13 | no assertion criteria provided | research | Converted during submission to Likely benign. |
Tuberous sclerosis database |
RCV000054871 | SCV000066340 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |