ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.86T>G (p.Leu29Arg)

dbSNP: rs886044719
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV000408508 SCV000281795 likely pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816379 SCV005073394 likely pathogenic Retinal dystrophy 2010-01-01 criteria provided, single submitter clinical testing

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