ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2424C>G (p.Cys808Trp)

dbSNP: rs869025257
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Paul Sabatier University EA-4555, Paul Sabatier University RCV000207424 SCV000259130 likely benign Anophthalmia-microphthalmia syndrome 2013-01-01 criteria provided, single submitter clinical testing

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