Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000999138 | SCV001155613 | likely pathogenic | not provided | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000999138 | SCV001756453 | pathogenic | not provided | 2023-09-08 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 36756855) |
MGZ Medical Genetics Center | RCV002275199 | SCV002562245 | likely pathogenic | Macrocephaly, acquired, with impaired intellectual development | 2022-05-24 | criteria provided, single submitter | clinical testing |