ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12599G>A (p.Trp4200Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation RCV003389538 SCV003927109 pathogenic Usher syndrome 2022-12-31 criteria provided, single submitter research

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