ClinVar Miner

Submissions for variant NM_139241.3(FGD4):c.823C>T (p.Arg275Ter) (rs118203974)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000001071 SCV000021221 pathogenic Charcot-Marie-Tooth disease, type 4H 2009-02-17 no assertion criteria provided literature only
GeneReviews RCV000001071 SCV000054708 pathologic Charcot-Marie-Tooth disease, type 4H 2012-09-13 no assertion criteria provided curation Converted during submission to Pathogenic.

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