Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002337556 | SCV002618862 | likely benign | Inborn genetic diseases | 2019-10-13 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Labcorp Genetics |
RCV003754940 | SCV004520665 | likely benign | Brachyolmia-amelogenesis imperfecta syndrome | 2023-08-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003973381 | SCV004790484 | likely benign | LTBP3-related disorder | 2019-04-24 | 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). |