ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.407T>C (p.Val136Ala) (rs104894826)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000011196 SCV000040503 pathologic X-linked hereditary motor and sensory neuropathy 2010-04-15 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000011196 SCV000031423 pathogenic X-linked hereditary motor and sensory neuropathy 2005-09-01 no assertion criteria provided literature only
OMIM RCV000011197 SCV000031424 pathogenic Dejerine-Sottas disease 2005-09-01 no assertion criteria provided literature only

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