ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.535T>G (p.Trp179Gly)

dbSNP: rs61755796
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002249143 SCV002517381 likely pathogenic Pigmentary retinal dystrophy 2022-05-04 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003152791 SCV003842156 likely pathogenic Retinitis pigmentosa 7 2023-03-17 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816984 SCV005073004 likely pathogenic Retinal dystrophy 2022-01-01 criteria provided, single submitter clinical testing

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