Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151328 | SCV000199298 | uncertain significance | not specified | 2013-10-05 | criteria provided, single submitter | clinical testing | The Arg1483Gln variant in MYH9 has not been reported in individuals with hearing loss or in large population studies. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Arg1483Gln variant may impact the protein, though this information is not predic tive enough to determine pathogenicity. In summary, additional data is needed to determine the clinical significance of this variant. |
Labcorp Genetics |
RCV002516038 | SCV003004162 | likely benign | not provided | 2022-08-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002516038 | SCV005078889 | uncertain significance | not provided | 2023-08-23 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Identified in a patient with a neurodevelopmental disorder in published literature and reported as p.(R1504Q) using an alternate reference sequence (Wang et al., 2020); This variant is associated with the following publications: (PMID: 33004838) |