ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.2797G>T (p.Glu933Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795433 SCV005418578 likely pathogenic Retinitis pigmentosa 3 criteria provided, single submitter clinical testing PVS1_Strong+PM2_Supporting+PP4

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