Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foundation for Research in Genetics and Endocrinology, |
RCV000655895 | SCV000747735 | pathogenic | Congenital myasthenic syndrome 10 | 2018-03-01 | no assertion criteria provided | clinical testing | The observed variant c.199C>T (p.P67S) is not reported in 1000 Genomes and ExAC databases. The in silico prediction of the variant is disease causing by MutationTaster2, tolerated by SIFT, and probably damaging by PolyPhen2. |