Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center of Genomic medicine, |
RCV000449559 | SCV000537756 | uncertain significance | Congenital myasthenic syndrome 8 | 2016-03-17 | criteria provided, single submitter | clinical testing | This variant is present in a state of homozygosity |