ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5461-6T>C

dbSNP: rs1659543067
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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 Medical Molecular Genetics, University of Zurich RCV001352975 SCV001548056 likely pathogenic Severe early-childhood-onset retinal dystrophy 2021-01-30 criteria provided, single submitter clinical testing

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