Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825861 | SCV000967345 | uncertain significance | not specified | 2018-09-21 | criteria provided, single submitter | clinical testing | The p.Thr1591Ala variant in ADGRV1 has not been previously reported in individua ls with hearing los or Usher syndrome, but has been identified in 0.002% (3/1115 74 ) of European chromosomes by the Genome Aggregation Database (gnomAD, http:// gnomad.broadinstitute.org). Computational prediction tools and conservation anal yses do not provide strong support for or against an impact to the protein. In s ummary, the clinical significance of the p.Thr1591Ala variant is uncertain. ACM G/AMP Criteria applied: PM2. |
Invitae | RCV001371307 | SCV001567865 | likely benign | not provided | 2024-01-02 | criteria provided, single submitter | clinical testing |