Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Medical Bioinformatics, |
RCV000626328 | SCV000693676 | likely pathogenic | Arrhythmogenic right ventricular dysplasia 11 | 2018-03-02 | criteria provided, single submitter | clinical testing | We detected the variant in two unrelated patients with ARVD11: a compound heterozygote with c.743_748delAAGTAT, and a homozygote. This variant was not detected in about 7000 individuals without any related phenotype. |