Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Agnes Ginges Centre for Molecular Cardiology, |
RCV000157113 | SCV001156267 | likely benign | Brugada syndrome | 2018-02-09 | criteria provided, single submitter | research | The ANK2 Gly3733del variant has been reported previously in 1 patient with suspected LQTS and was absent from 300 controls (Lieve KV, et al., 2004). The variant is also absent from the Genome Aggregation Database (http://gnomad.broadinstitute.org/). We identified this variant in a patient with Brugada Syndrome (same case as SCV000206836), however the variant did not segregate to their affected sibling. In summary, based on the lack of segregation in our family we classify ANK2 Gly3733del as "likely benign". |
Blueprint Genetics | RCV000157113 | SCV000206836 | uncertain significance | Brugada syndrome | 2014-05-09 | no assertion criteria provided | clinical testing |