ClinVar Miner

Submissions for variant NM_001370298.3(FGD4):c.2039_2040del (p.Glu680fs)

dbSNP: rs1565921326
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000001068 SCV000021218 pathogenic Charcot-Marie-Tooth disease type 4H 2007-07-01 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000789110 SCV000928461 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV000001068 SCV004174414 uncertain significance Charcot-Marie-Tooth disease type 4H 2016-01-06 no assertion criteria provided literature only

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