ClinVar Miner

Submissions for variant NM_006445.4(PRPF8):c.6926A>C (p.His2309Pro)

dbSNP: rs121434236
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073295 SCV001238833 pathogenic Retinal dystrophy 2018-10-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000003520 SCV002781898 likely pathogenic Retinitis pigmentosa 13 2022-04-25 criteria provided, single submitter clinical testing
OMIM RCV000003520 SCV000023678 pathogenic Retinitis pigmentosa 13 2010-05-01 no assertion criteria provided literature only

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