Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156864 | SCV000206585 | uncertain significance | not specified | 2014-11-18 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The c.4153-7C>A var iant in MYO7A has not been previously reported in individuals with hearing loss or in large population studies. This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing, though this informati on is not predictive enough to rule out pathogenicity. In summary, while the cl inical significance of the c.4153-7C>A variant is uncertain, the splicing data s uggest that it is more likely to be benign. |
Counsyl | RCV000666882 | SCV000791250 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 | 2017-05-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000841788 | SCV000983772 | likely benign | not provided | 2020-08-18 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 21602428) |
Invitae | RCV000841788 | SCV001535646 | likely benign | not provided | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001271758 | SCV001453184 | uncertain significance | Usher syndrome type 1B | 2020-04-16 | no assertion criteria provided | clinical testing |