ClinVar Miner

Submissions for variant NM_015629.4(PRPF31):c.764A>T (p.Gln255Leu)

dbSNP: rs527236095
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132675 SCV000172627 probable-pathogenic Retinitis pigmentosa no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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