Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002216652 | SCV002362415 | benign | not provided | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002277008 | SCV002564933 | likely benign | Osteogenesis imperfecta | 2020-06-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003303741 | SCV004008935 | likely benign | Inborn genetic diseases | 2023-05-24 | 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. |
Ce |
RCV002216652 | SCV004166740 | likely benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | MBTPS2: BS2 |
Prevention |
RCV003933329 | SCV004760477 | likely benign | MBTPS2-related disorder | 2021-02-15 | no assertion criteria provided | 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). |