ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5153T>G (p.Val1718Gly)

dbSNP: rs886044732
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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 RCV004816448 SCV005073390 likely pathogenic Retinal dystrophy 2010-01-01 criteria provided, single submitter clinical testing

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