Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000609026 | SCV000712177 | uncertain significance | not specified | 2016-06-02 | criteria provided, single submitter | clinical testing | The p.His22Gln variant in CDH23 has not been previously reported in individuals with hearing loss or Usher syndrome. This variant has been identified in 2/1136 4 Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs775172553); however, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation ana lyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.His22Gln variant is uncertain. |
Fulgent Genetics, |
RCV002498891 | SCV002813343 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types | 2021-10-14 | criteria provided, single submitter | clinical testing |