ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5196+2T>C

dbSNP: rs61751405
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV000408592 SCV000281917 pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073647 SCV001239198 pathogenic Retinal dystrophy 2019-07-27 criteria provided, single submitter clinical testing
Institute of Medical Molecular Genetics, University of Zurich RCV000408592 SCV001548151 likely pathogenic Severe early-childhood-onset retinal dystrophy 2021-01-30 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV001073647 SCV005071300 pathogenic Retinal dystrophy 2020-01-01 criteria provided, single submitter clinical testing
Retina International RCV000085708 SCV000117848 not provided not provided no assertion provided not provided

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