ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.24G>A (p.Thr8=) (rs533231493)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000172829 SCV000793800 uncertain significance Deafness, autosomal recessive 1A 2017-11-14 criteria provided, single submitter clinical testing
Deafness research group, Biosystems & Integrative Sciences Institute,University of Lisbon RCV000172829 SCV000223794 uncertain significance Deafness, autosomal recessive 1A 2012-12-12 criteria provided, single submitter clinical testing

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