ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.314_329del (p.Lys105fs)

dbSNP: rs797045596
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194203 SCV000247474 pathogenic Autosomal recessive nonsyndromic hearing loss 1A 2013-02-08 criteria provided, single submitter clinical testing

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