Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000603747 | SCV000719887 | likely benign | not specified | 2017-06-14 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV001398828 | SCV001600605 | likely benign | Osteogenesis imperfecta type I | 2023-06-17 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002279407 | SCV002564726 | likely benign | Osteogenesis imperfecta | 2021-04-15 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002279408 | SCV002565520 | likely benign | Ehlers-Danlos syndrome | 2021-04-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002456345 | SCV002614733 | likely benign | Cardiovascular phenotype | 2021-08-22 | 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. |
Genome Diagnostics Laboratory, |
RCV001579993 | SCV001809294 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001579993 | SCV001968936 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Prevention |
RCV004553361 | SCV004780481 | likely benign | COL1A1-related disorder | 2019-08-28 | 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). |