ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.508G>T (p.Val170Phe) (rs748095370)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Inherited Neuropathy Consortium RCV000789869 SCV000929254 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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