ClinVar Miner

Submissions for variant NC_000004.12:g.78268671_78298757del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand RCV001172409 SCV001335468 pathogenic Fraser syndrome 1 2018-09-14 criteria provided, single submitter clinical testing This variant in homozygous state or compound heterozygous state induced Fraser syndrome phenotype

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