ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.851G>A (p.Arg284His)

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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, Univ. Regensburg, Univ. Regensburg RCV004817239 SCV005069235 likely pathogenic Retinal dystrophy 2015-01-01 no assertion criteria provided clinical testing

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