Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000732838 | SCV000860830 | uncertain significance | not provided | 2018-05-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001087881 | SCV001098383 | likely benign | Acrocallosal syndrome | 2024-01-06 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000732838 | SCV001250422 | uncertain significance | not provided | 2019-09-01 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001335631 | SCV001528819 | uncertain significance | Multiple epiphyseal dysplasia, Al-Gazali type | 2018-04-17 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Gene |
RCV000732838 | SCV001813474 | likely benign | not provided | 2020-12-21 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |