Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041697 | SCV000065393 | pathogenic | Rare genetic deafness | 2011-02-16 | criteria provided, single submitter | clinical testing | The 1143+1G>A variant in USH2A has not been reported in the literature. The 1143 +1G>A variant is predicted to cause abnormal splicing because the nucleotide sub stitution occurs in the invariant region of the splice consensus sequence. In su mmary, this variant meets our criteria to be classified as pathogenic. |
Molecular Genetics Laboratory, |
RCV001199582 | SCV001162753 | pathogenic | Cone-rod dystrophy | 2020-01-09 | criteria provided, single submitter | research | |
Genome- |
RCV003445116 | SCV004172211 | pathogenic | Retinitis pigmentosa 39 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003445115 | SCV004172213 | pathogenic | Usher syndrome type 2A | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003445116 | SCV004200682 | pathogenic | Retinitis pigmentosa 39 | 2023-06-11 | criteria provided, single submitter | clinical testing |