Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003399051 | SCV004111737 | likely pathogenic | SMARCA2-related disorder | 2023-02-17 | criteria provided, single submitter | clinical testing | The SMARCA2 c.1553T>C variant is predicted to result in the amino acid substitution p.Ile518Thr. 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 is interpreted as likely pathogenic. |
Biochemical Molecular Genetic Laboratory, |
RCV001283797 | SCV001469185 | likely pathogenic | Nicolaides-Baraitser syndrome | 2020-05-06 | no assertion criteria provided | clinical testing |