Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV000516594 | SCV000612929 | benign | not specified | 2016-12-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001087190 | SCV000627362 | benign | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2024-01-06 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000757103 | SCV000885217 | benign | not provided | 2023-05-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000757103 | SCV000977996 | benign | not provided | 2018-04-18 | 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. |
Ambry Genetics | RCV002383991 | SCV002693434 | likely benign | Cardiovascular phenotype | 2019-05-31 | 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. |