Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000469951 | SCV000544359 | benign | Tuberous sclerosis 2 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001696845 | SCV000718155 | likely benign | not provided | 2021-04-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002318520 | SCV000849685 | likely benign | Hereditary cancer-predisposing syndrome | 2022-12-29 | 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. |
St. |
RCV001543108 | SCV001761615 | uncertain significance | Tuberous sclerosis syndrome | 2021-07-22 | criteria provided, single submitter | clinical testing | The TSC2 c.4216G>A (p.Asp1406Asn) missense change has a maximum subpopulation frequency of 0.017% gnomAD v2.1.1 (https://gnomad.broadinstitute.org/variant/16-2134439-G-A). Six of seven in silico tools predict a benign effect of this variant on protein function (BP4), but to our knowledge these predictions have not been confirmed by functional assays. To our knowledge, this variant has not been reported in individuals with tuberous sclerosis complex. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: BP4. |
Genome- |
RCV000469951 | SCV002039835 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001696845 | SCV004129855 | likely benign | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | TSC2: BP4 |