Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000660208 | SCV000782208 | likely pathogenic | Waardenburg syndrome type 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001861716 | SCV002260190 | uncertain significance | not provided | 2022-06-13 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 547740). This variant has been observed in individual(s) with Waardenburg syndrome (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 3 of the PAX3 gene. It does not directly change the encoded amino acid sequence of the PAX3 protein. |
Gene |
RCV001861716 | SCV003927694 | uncertain significance | not provided | 2022-11-27 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge |