Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Genetics and Genomics, |
RCV001269848 | SCV001450152 | likely pathogenic | not provided | 2016-11-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001269848 | SCV001500272 | likely pathogenic | not provided | 2020-09-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003393940 | SCV004121265 | pathogenic | SHANK3-related condition | 2023-08-11 | criteria provided, single submitter | clinical testing | The SHANK3 c.4972C>T variant is predicted to result in premature protein termination (p.Arg1658*). To our knowledge this variant has not been reporting in the literature. This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in SHANK3 are expected to be pathogenic. This variant is interpreted as pathogenic. |