Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000514953 | SCV000610143 | likely benign | not provided | 2017-06-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001083506 | SCV000656694 | benign | Epilepsy, familial focal, with variable foci 3 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000514953 | SCV001794782 | likely benign | not provided | 2021-08-05 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016) 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 Observed in heterozygous state in multiple clinically unaffected adult relatives of individuals referred for genetic testing at GeneDx, suggesting the variant is benign |