ClinVar Miner

Submissions for variant NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser) (rs121909076)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000007787 SCV000027988 pathogenic Retinitis pigmentosa 14 2004-12-01 no assertion criteria provided literature only
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132649 SCV000172600 pathogenic Retinitis pigmentosa no assertion criteria provided not provided Converted during submission to Pathogenic.

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