Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Cytogenetique et Genetique Moleculaire, |
RCV002508853 | SCV002818110 | likely pathogenic | Hypotonia, ataxia, and delayed development syndrome | 2022-09-01 | criteria provided, single submitter | clinical testing | De Novo variant (confirmed by parental segregation thanks to Sanger sequencing), associated with a matching described phenotype (hypotonia, delayed developmental syndrome, strabism..). |