Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000180692 | SCV000233171 | uncertain significance | not provided | 2014-06-06 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV001195357 | SCV001365703 | uncertain significance | not specified | 2019-09-25 | criteria provided, single submitter | clinical testing | The p.Tyr559His variant in ADGRV1 has not been previously reported in individuals with hearing loss or Usher syndrome but has been identified in 0.01% (2/15484) of African chromosomes by gnomAD (http://gnomad.broadinstitute.org). This variant has also been reported in ClinVar (Variation ID 199175). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting. |