ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.4538A>G (p.Asp1513Gly)

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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 RCV001172402 SCV001335460 likely pathogenic Fraser syndrome 2 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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