Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152628 | SCV000201944 | uncertain significance | not specified | 2013-11-25 | criteria provided, single submitter | clinical testing | The His1015Tyr variant in USH2A has not been previously reported in individuals with hearing loss, but has been identified in 0.05% (4/8600) of European America n chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.ed u; dbSNP rs142302070). Computational tools (biochemical amino acid properties, c onservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong evidence for or against an impact to the protein. In summary, additional data is needed to de termine the clinical significance of this variant. |
Invitae | RCV001034259 | SCV001197594 | likely benign | not provided | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001034259 | SCV001788034 | uncertain significance | not provided | 2020-09-02 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Division of Human Genetics, |
RCV000477797 | SCV000536820 | uncertain significance | Usher syndrome type 2A | 2015-07-25 | no assertion criteria provided | research | |
Natera, |
RCV000477797 | SCV001459764 | uncertain significance | Usher syndrome type 2A | 2019-11-11 | no assertion criteria provided | clinical testing |