Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Medical Genetics, |
RCV001000091 | SCV000930638 | likely pathogenic | Bardet-biedl syndrome 21 | criteria provided, single submitter | clinical testing | This variant g.5175C>T is found to be compound heterozygous with another variant g.10545del in C8orf37 gene. These variants are predicted to be disease causing by MutationTaster. |