ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1357-2A>G

dbSNP: rs886044726
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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 RCV000408557 SCV000281819 pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000408557 SCV001440524 likely pathogenic Severe early-childhood-onset retinal dystrophy 2019-01-01 criteria provided, single submitter clinical testing

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