ClinVar Miner

Submissions for variant NM_020066.5(FMN2):c.2233C>T (p.Gln745Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989163 SCV004805671 pathogenic Intellectual disability, autosomal recessive 47 2024-03-29 criteria provided, single submitter clinical testing

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