Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000262341 | SCV000329523 | pathogenic | not provided | 2019-08-20 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 29907796, 22726846, 25168959) |
Baylor Genetics | RCV000074462 | SCV000807306 | uncertain significance | Intellectual disability, autosomal dominant 15 | 2017-09-01 | criteria provided, single submitter | clinical testing | This variant has been previously reported as disease-causing and was found twice in our laboratory de novo: in a 6-year-old male with global delays, autism spectrum, hypotonia, hydrocephalus, VUR, agenesis of the corpus callosum, myopia, pes cavus, elevated free T4; in an 8-year-old female with intellectual disability, behavior problems, hydrocephalus, dysmorphisms, amblyopia, myopic astigmatixm, hypoplastic labia majora, hypertonia, decreased muscle mass, dysphagia, Wilms tumor |
SIB Swiss Institute of Bioinformatics | RCV000074462 | SCV000883290 | uncertain significance | Intellectual disability, autosomal dominant 15 | 2018-10-15 | criteria provided, single submitter | curation | This variant is interpreted as Uncertain Significance - Insufficient Evidence, for Coffin-Siris syndrome 3, autosomal dominant. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PM6 => Assumed de novo, but without confirmation of paternity and maternity (https://www.ncbi.nlm.nih.gov/pubmed/22726846). |
Baylor Genetics | RCV001533133 | SCV001748953 | pathogenic | SMARCB1-related BAFopathy | 2021-06-10 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000074462 | SCV002023594 | likely pathogenic | Intellectual disability, autosomal dominant 15 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Laboratory of Medical Genetics, |
RCV000074462 | SCV004171091 | likely pathogenic | Intellectual disability, autosomal dominant 15 | criteria provided, single submitter | clinical testing | ||
OMIM | RCV000074462 | SCV000108478 | pathogenic | Intellectual disability, autosomal dominant 15 | 2012-07-13 | no assertion criteria provided | literature only |