ClinVar Miner

Submissions for variant NM_000539.3(RHO):c.632A>C (p.His211Pro)

dbSNP: rs28933993
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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 RCV001074697 SCV001240290 likely pathogenic Retinal dystrophy 2019-04-02 criteria provided, single submitter clinical testing
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV000013901 SCV001443237 likely pathogenic Retinitis pigmentosa 4 2020-09-01 criteria provided, single submitter clinical testing
OMIM RCV000013901 SCV000034148 pathogenic Retinitis pigmentosa 4 1991-09-01 no assertion criteria provided literature only

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