Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000601148 | SCV000711527 | uncertain significance | not specified | 2016-06-02 | criteria provided, single submitter | clinical testing | The p.Ser180Arg variant in PAX3 has not been previously reported in individuals with hearing loss or Waardenburg syndrome, but has been identified in 8/10406 Af rican chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadin stitute.org; dbSNP rs200679164). Although this variant has been seen in the gene ral population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation analyses do not provide strong s upport for or against an impact to the protein. In summary, the clinical signifi cance of the p.Ser180Arg variant is uncertain. |
Fulgent Genetics, |
RCV000765615 | SCV000896939 | uncertain significance | Alveolar rhabdomyosarcoma; Waardenburg syndrome type 1; Craniofacial-deafness-hand syndrome; Waardenburg syndrome type 3 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003718260 | SCV004506925 | likely benign | not provided | 2023-11-22 | criteria provided, single submitter | clinical testing |