Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001810557 | SCV001474170 | likely benign | not provided | 2022-03-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002241662 | SCV001708981 | likely benign | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002379978 | SCV002689177 | likely benign | Cardiovascular phenotype | 2020-03-17 | 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. |
Prevention |
RCV003938600 | SCV004749433 | likely benign | COL1A2-related disorder | 2023-02-15 | 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). |