Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825404 | SCV000966701 | uncertain significance | not specified | 2018-11-28 | criteria provided, single submitter | clinical testing | The p.Ala1755Thr variant in MYO7A has not been previously reported in individual s with hearing loss or Usher syndrome, but has been identified in 0.069% (16/228 60) of South Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). Com putational prediction tools and conservation analysis do not provide strong supp ort for or against an impact to the protein. In summary, the clinical significan ce of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting. |
Invitae | RCV002067412 | SCV002326080 | likely benign | not provided | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001273510 | SCV001456621 | uncertain significance | Usher syndrome type 1B | 2020-09-16 | no assertion criteria provided | clinical testing |