Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000660272 | SCV000782297 | pathogenic | Waardenburg syndrome type 4C | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Genetic Testing Center for Deafness, |
RCV001290165 | SCV001478222 | pathogenic | Waardenburg syndrome type 2E | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004533451 | SCV004708568 | pathogenic | SOX10-related disorder | 2023-10-27 | criteria provided, single submitter | clinical testing | The SOX10 c.127C>T variant is predicted to result in premature protein termination (p.Arg43*). This variant was reported as de novo in at least one patient with Waardenburg syndrome (Li. 2019. PubMed ID: 30936914; Wang. 2021. PubMed ID: 34142234; Li. 2022. PubMed ID: 36576601). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in SOX10 are expected to be pathogenic. This variant is interpreted as pathogenic. |