Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000608260 | SCV000713938 | likely benign | not specified | 2017-07-03 | 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. |
Invitae | RCV002062160 | SCV002407566 | benign | Jeune thoracic dystrophy | 2024-01-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV003117377 | SCV003799727 | benign | Asphyxiating thoracic dystrophy 3 | 2022-04-08 | criteria provided, single submitter | clinical testing |