Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centogene AG - |
RCV001251191 | SCV001426577 | likely pathogenic | Intellectual disability, autosomal dominant 48 | criteria provided, single submitter | clinical testing | ||
Baylor Genetics | RCV001251191 | SCV001529844 | likely pathogenic | Intellectual disability, autosomal dominant 48 | 2018-04-05 | criteria provided, single submitter | clinical testing | This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Gene |
RCV003227943 | SCV003924843 | uncertain significance | not provided | 2022-11-10 | 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: 32860008) |
Daryl Scott Lab, |
RCV001251191 | SCV004102736 | likely pathogenic | Intellectual disability, autosomal dominant 48 | 2023-11-10 | criteria provided, single submitter | clinical testing |