ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.406_407dup (p.Ile137fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) RCV003320013 SCV004024230 likely pathogenic Charcot-Marie-Tooth disease X-linked dominant 1 criteria provided, single submitter clinical testing

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