Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150678 | SCV000198035 | uncertain significance | not specified | 2013-10-06 | criteria provided, single submitter | clinical testing | The Gly22Asp variant in EYA1 has not been reported in individuals with hearing l oss or in large population studies. Computational analyses (biochemical amino ac id properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Gl y22Asp variant may not impact the protein, though this information is not predic tive enough to rule out pathogenicity. In summary, additional data is needed to determine the clinical significance of this variant. |
Fulgent Genetics, |
RCV002505146 | SCV002816970 | uncertain significance | Branchiootic syndrome 1; Branchiootorenal syndrome 1; Otofaciocervical syndrome 1 | 2022-01-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003593920 | SCV004283155 | benign | Melnick-Fraser syndrome | 2023-11-07 | criteria provided, single submitter | clinical testing |