Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000310144 | SCV000341350 | uncertain significance | not provided | 2016-05-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001079274 | SCV000644211 | likely benign | Tuberous sclerosis 2 | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001079274 | SCV002041133 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002321961 | SCV002609495 | likely benign | Hereditary cancer-predisposing syndrome | 2019-09-13 | 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. |
Prevention |
RCV003949901 | SCV004761400 | likely benign | TSC2-related condition | 2019-03-13 | 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). |