ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.254C>G (p.Ser85Cys) (rs104894823)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Inherited Neuropathy Consortium RCV000789235 SCV000928587 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
OMIM RCV000011189 SCV000031416 pathogenic X-linked hereditary motor and sensory neuropathy 2002-03-19 no assertion criteria provided literature only

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