ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.123G>C (p.Glu41Asp) (rs116840816)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000020169 SCV000040497 pathologic X-linked hereditary motor and sensory neuropathy 2010-04-15 no assertion criteria provided curation Converted during submission to Pathogenic.
Inherited Neuropathy Consortium RCV000789264 SCV000928617 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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