Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000624587 | SCV000741053 | pathogenic | Inborn genetic diseases | 2015-09-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003424192 | SCV004117402 | likely pathogenic | SOX9-related condition | 2022-09-08 | criteria provided, single submitter | clinical testing | The SOX9 c.331G>A variant is predicted to result in the amino acid substitution p.Ala111Thr. 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 reported de novo in an individual with features consistent with campomelic dysplasia (Internal Data, PreventionGenetics). This variant is interpreted as likely pathogenic. |