Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151504 | SCV000199591 | uncertain significance | not specified | 2014-02-20 | criteria provided, single submitter | clinical testing | The Ala1286Thr variant in MYO7A has not been previously reported in individuals with hearing loss and was absent from large population studies. Computational pr ediction tools and conservation analyses do not provide strong support for or ag ainst an impact to the protein. In summary, additional information is needed to determine the clinical significance of this variant. |
Counsyl | RCV000666382 | SCV000790663 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 | 2017-04-03 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV001073912 | SCV001239477 | uncertain significance | Retinal dystrophy | 2018-06-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001314043 | SCV001504557 | likely benign | not provided | 2023-11-25 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001273494 | SCV001456605 | uncertain significance | Usher syndrome type 1B | 2020-09-16 | no assertion criteria provided | clinical testing |