ClinVar Miner

Submissions for variant NM_139241.3(FGD4):c.893T>C (p.Met298Thr) (rs63749871)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000001070 SCV000021220 pathogenic Charcot-Marie-Tooth disease, type 4H 2007-07-01 no assertion criteria provided literature only
GeneReviews RCV000001070 SCV000054709 pathologic Charcot-Marie-Tooth disease, type 4H 2012-09-13 no assertion criteria provided curation Converted during submission to Pathogenic.
Inherited Neuropathy Consortium RCV000789103 SCV000928454 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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