ClinVar Miner

Submissions for variant NM_006445.4(PRPF8):c.6902C>T (p.Pro2301Leu)

dbSNP: rs2151109012
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002272800 SCV002557024 uncertain significance Retinitis pigmentosa 13 2022-02-10 criteria provided, single submitter clinical testing

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