ClinVar Miner

Submissions for variant NM_021629.4(GNB4):c.265A>G (p.Lys89Glu) (rs387907341)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000034851 SCV000058421 pathogenic Charcot-Marie-Tooth disease, dominant intermediate F 2013-03-07 no assertion criteria provided literature only

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