Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001064072 | SCV001228948 | uncertain significance | Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 | 2021-09-02 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV003396708 | SCV004118690 | likely pathogenic | SCN2A-related condition | 2022-09-29 | criteria provided, single submitter | clinical testing | The SCN2A c.2539T>C variant is predicted to result in the amino acid substitution p.Ser847Pro. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant has been confirmed de novo in an individual with infantile-onset seizures (Internal Data, PreventionGenetics, LCC). This variant is interpreted as likely pathogenic. |