Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000593456 | SCV000708969 | uncertain significance | not provided | 2017-05-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000639906 | SCV000761492 | likely benign | Generalized epilepsy-paroxysmal dyskinesia syndrome | 2023-12-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000593456 | SCV004168446 | uncertain significance | not provided | 2023-04-19 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. |