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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_007123.5(USH2A):c.4338_4339delCT (p.Cys1447Glnfs) | Pathogenic | Usher syndrome | 2019-07-17 | 1.0 | - | USH2A |
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