Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825296 | SCV000966591 | uncertain significance | not specified | 2019-01-17 | criteria provided, single submitter | clinical testing | The p.Pro402Leu variant in CDH23 has been previously reported in an individual w ith hearing loss who also harbored a second variant in CDH23 in trans with this variant (Kim 2016). This variant has been identified in 0.017% (4/24172) of Afri can chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational pre diction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogen icity. In summary, the clinical significance of this variant is uncertain. ACMG/ AMP criteria applied: PM2, PP3, PM3_Supporting. |
Baylor Genetics | RCV003473521 | SCV004210612 | likely pathogenic | Pituitary adenoma 5, multiple types | 2023-09-20 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001271842 | SCV001453313 | uncertain significance | Usher syndrome type 1 | 2020-09-16 | no assertion criteria provided | clinical testing |