Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003078332 | SCV003471053 | likely benign | Brachyolmia-amelogenesis imperfecta syndrome | 2022-06-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003883874 | SCV004702220 | likely benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | LTBP3: PM2:Supporting, BP4, BP7 |
Ambry Genetics | RCV004636650 | SCV005129991 | likely benign | Inborn genetic diseases | 2024-04-01 | 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. |