Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000198432 | SCV000249940 | benign | not specified | 2014-12-30 | 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. |
Preventiongenetics, |
RCV000198432 | SCV000303991 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV002057029 | SCV002408268 | benign | Ehlers-Danlos syndrome, classic type, 1 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV003114351 | SCV003799364 | likely benign | Ehlers-Danlos syndrome, classic type, 2 | 2022-04-06 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000198432 | SCV004028671 | benign | not specified | 2023-07-21 | criteria provided, single submitter | clinical testing |