ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.617T>C (p.Val206Ala)

dbSNP: rs1064797323
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000487971 SCV000575470 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816709 SCV005069089 uncertain significance Retinal dystrophy 2014-01-01 no assertion criteria provided clinical testing

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