ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.66G>T (p.Lys22Asn) (rs879253741)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics, University of Parma RCV000234850 SCV000280581 pathogenic Palmoplantar keratoderma-deafness syndrome 2016-04-26 no assertion criteria provided clinical testing Variant predicted to result in aminoacid change not previously reported in patients with disease. Variant detected in four affected family members.

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