Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000124509 | SCV000167942 | benign | not specified | 2014-05-12 | 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. |
Center for Human Genetics, |
RCV000680514 | SCV000807899 | likely benign | Connective tissue disorder | 2018-06-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002055503 | SCV002431452 | benign | Ehlers-Danlos syndrome, classic type, 1 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV002227068 | SCV002506317 | benign | Ehlers-Danlos syndrome, classic type, 2 | 2022-02-03 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000124509 | SCV004028675 | benign | not specified | 2023-07-30 | criteria provided, single submitter | clinical testing |