ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5113C>G (p.Arg1705Gly)

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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 Genetics and Applied Genomics, University Hospital Tübingen RCV002302857 SCV002589118 likely pathogenic Severe early-childhood-onset retinal dystrophy 2022-11-04 criteria provided, single submitter clinical testing

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