ClinVar Miner

Submissions for variant NM_006177.5(NRL):c.91C>T (p.Arg31Ter) (rs762991211)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rappaport Faculty of Medicine,Technion-Israel Institute of Technology RCV000408517 SCV000346019 pathogenic Enhanced s-cone syndrome no assertion criteria provided clinical testing
Sharon lab,Hadassah-Hebrew University Medical Center RCV000408517 SCV001161162 pathogenic Enhanced s-cone syndrome 2019-06-23 no assertion criteria provided research

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