Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155242 | SCV000204928 | uncertain significance | not specified | 2014-04-11 | criteria provided, single submitter | clinical testing | The Arg1832Gln variant in MYO7A has not been previously reported in individuals with hearing loss, but has been identified in 0.07% (3/4216) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu /EVS/). Computational analyses (biochemical amino acid properties, conservation , AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against a n impact to the protein. In summary, the clinical significance of the Arg1832Gln variant is uncertain. |
Invitae | RCV001241068 | SCV001414058 | likely benign | not provided | 2024-01-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001241068 | SCV002499909 | uncertain significance | not provided | 2021-10-13 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |
Division of Human Genetics, |
RCV000477766 | SCV000536771 | uncertain significance | Autosomal dominant nonsyndromic hearing loss 11 | 2015-09-21 | no assertion criteria provided | research | |
Natera, |
RCV001826836 | SCV002088507 | uncertain significance | Usher syndrome type 1B | 2019-11-11 | no assertion criteria provided | clinical testing |