ClinVar Miner

Submissions for variant NM_024513.4(FYCO1):c.1411C>T (p.Arg471Ter)

gnomAD frequency: 0.00001  dbSNP: rs768945306
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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, University of Leipzig Medical Center RCV001262442 SCV001440319 pathogenic Cataract 18 2019-03-25 criteria provided, single submitter clinical testing

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