ClinVar Miner

Submissions for variant NM_001370298.3(FGD4):c.1573dup (p.Ser525fs)

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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 Goettingen RCV002569459 SCV002771876 likely pathogenic Charcot-Marie-Tooth disease type 4H 2022-11-02 criteria provided, single submitter clinical testing

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