ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.809T>C (p.Leu270Pro)

dbSNP: rs2152005198
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001823018 SCV002072523 uncertain significance Retinitis pigmentosa 7 2024-07-01 criteria provided, single submitter clinical testing Criteria applied: PM1,PM2,PP3

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