Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000163615 | SCV000214182 | likely benign | Hereditary cancer-predisposing syndrome | 2015-12-31 | 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. |
Invitae | RCV000472791 | SCV000556464 | benign | Tuberous sclerosis 2 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001703962 | SCV000717704 | likely benign | not provided | 2021-04-19 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 18854862, 26071483) |
Genome- |
RCV000472791 | SCV002039299 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV000472791 | SCV004016191 | likely benign | Tuberous sclerosis 2 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003905019 | SCV004725202 | likely benign | TSC2-related condition | 2023-01-24 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Tuberous sclerosis database |
RCV000055363 | SCV000083584 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |