Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000192981 | SCV000248785 | likely benign | not specified | 2017-12-05 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000192981 | SCV000337946 | benign | not specified | 2015-11-18 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000687700 | SCV000614955 | benign | not provided | 2018-09-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001081474 | SCV000815285 | benign | Spastic paraplegia | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000687700 | SCV001895309 | likely benign | not provided | 2021-07-07 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |