Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000029615 | SCV000052267 | likely benign | Osteogenesis imperfecta | 2011-08-18 | criteria provided, single submitter | curation | Converted during submission to Likely benign. |
Gene |
RCV001575964 | SCV001803059 | likely benign | not provided | 2020-09-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002054489 | SCV002333289 | likely benign | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002276581 | SCV002565598 | uncertain significance | Ehlers-Danlos syndrome | 2019-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002371784 | SCV002687197 | likely benign | Cardiovascular phenotype | 2019-05-27 | 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. |
ARUP Laboratories, |
RCV001575964 | SCV004565269 | benign | not provided | 2023-03-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003914866 | SCV004737351 | likely benign | COL1A2-related disorder | 2019-05-23 | 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). |