ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5189G>A (p.Trp1730Ter) (rs886044747)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000408479 SCV000281915 pathogenic Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075418 SCV001241041 likely pathogenic Retinal dystrophy 2018-08-06 criteria provided, single submitter clinical testing
Sharon lab,Hadassah-Hebrew University Medical Center RCV001002819 SCV001160834 pathogenic Stargardt disease 2019-06-23 no assertion criteria provided research

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