ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.134G>A (p.Gly45Glu) (rs72561723)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000022510 SCV000220956 likely pathogenic Deafness, autosomal recessive 1A 2014-12-13 criteria provided, single submitter literature only
OMIM RCV000018561 SCV000038843 pathogenic Keratitis-ichthyosis-deafness syndrome, autosomal dominant 2011-12-01 no assertion criteria provided literature only

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