Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000644357 | SCV000766050 | benign | Tuberous sclerosis 2 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001022945 | SCV001184745 | likely benign | Hereditary cancer-predisposing syndrome | 2018-12-12 | 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 |
RCV001653965 | SCV001866339 | likely benign | not provided | 2021-10-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000644357 | SCV002039516 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001022945 | SCV002533971 | benign | Hereditary cancer-predisposing syndrome | 2021-05-14 | criteria provided, single submitter | curation | |
Center for Genomics, |
RCV003224362 | SCV003920604 | likely benign | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2022-12-05 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.006% [1/15286]; https://gnomad.broadinstitute.org/variant/16-2086249-G-A?dataset=gnomad_r3). This variant is present in ClinVar, with several labs classifying this variant as Likely Benign or Benign (Variation ID: 536068). Evolutionary conservation and computational prediction tools for this variant are limited or unavailable. Of note, this is a silent variant and does not change the amino acid, reducing the probability that this variant is disease-causing. In summary, data on this variant suggests that this variant does not cause disease but requires further evidence. Therefore, this variant is classified as likely benign. |