Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000611400 | SCV000712813 | uncertain significance | not specified | 2016-12-13 | criteria provided, single submitter | clinical testing | The p.Asn2159Asp variant in MYO7A variant has not been previously reported in in dividuals with hearing loss or Usher syndrome. Data from large population studie s are insufficient to assess the frequency of this variant in the general popula tion. Computational prediction tools and conservation analyses suggest that thi s variant may impact the protein, though this information is not predictive enou gh to determine pathogenicity. In summary, the clinical significance of the p.As n2159Asp variant is uncertain. |
Natera, |
RCV001829712 | SCV002088546 | uncertain significance | Usher syndrome type 1B | 2021-06-28 | no assertion criteria provided | clinical testing |