Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041729 | SCV000065425 | likely pathogenic | Rare genetic deafness | 2011-04-15 | criteria provided, single submitter | clinical testing | The Gly4247Arg variant in USH2A has not been reported in the literature nor prev iously identified by our laboratory. This residue is highly conserved across spe cies and computational analyses (PolyPhen2, SIFT, AlignGVGD) suggest that the Gl y4247Arg variant may impact the protein. In addition, this variant was identifed in trans with another pathogenic variant in USH2A. In summary, this data sugges ts that this variant is likely to be pathogenic. |
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation | RCV003389451 | SCV003927146 | pathogenic | Usher syndrome | 2022-12-31 | criteria provided, single submitter | research | |
Genome- |
RCV003450768 | SCV004181950 | likely pathogenic | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Dept Of Ophthalmology, |
RCV003887890 | SCV004707258 | uncertain significance | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research |