ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.-16-2A>G (rs751230398)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000235072 SCV000292350 likely pathogenic Charcot-Marie-Tooth Neuropathy X Type 1 2015-08-18 criteria provided, single submitter research This splicing variant is predicted deleterious according to ACMG guidelines and was identified in an individual with demyelinating peripheral neuropathy. RNA was not available for studies.

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