ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5363C>T (p.Pro1788Leu)

dbSNP: rs886044751
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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 RCV004816418 SCV000281923 uncertain significance Retinal dystrophy 2011-01-01 criteria provided, single submitter clinical testing

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