ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.1525del (p.Thr509fs)

dbSNP: rs753619551
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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 RCV001075287 SCV001240903 pathogenic Retinal dystrophy 2017-11-13 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV001075287 SCV005069129 pathogenic Retinal dystrophy 2015-01-01 criteria provided, single submitter clinical testing
Faculty of Health Sciences, Beirut Arab University RCV001257857 SCV001434624 pathogenic Autosomal recessive retinitis pigmentosa 2012-10-26 no assertion criteria provided literature only

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