Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000454536 | SCV000539077 | uncertain significance | not specified | 2016-06-02 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Jara-Prado-2012 reported a R182L or R182C (typo?) variant in 1/41 patients with juvenile myoclonic epilepsy (different transcript). The variant was also present in asymptomatic father. |
Invitae | RCV003766473 | SCV000932372 | likely benign | Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 | 2020-08-06 | criteria provided, single submitter | clinical testing |