Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003328563 | SCV004035640 | pathogenic | not provided | 2023-09-16 | criteria provided, single submitter | clinical testing | Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |
Division of Human Genetics, |
RCV000185550 | SCV000238432 | uncertain significance | Baraitser-Winter syndrome 1 | 2015-05-07 | no assertion criteria provided | research | The heterozygous variant in the ACTB gene (c.123+1G>A) is considered a variant od uncertain significance. This variant has not been previously published and is not seen in the ExAC database, also there are no LOF variants for this gene in the ExAC database. The nucleotide position is highly conserved and part of a splice site with computational splice site predictors (SpliceSiteFinder-like, MaxEntScan, NNSplice, GeneSplicer, Human Splicing Finder) predicting a loss of the splice site. |