ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.134del (p.Gly45fs)

dbSNP: rs1057517491
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409450 SCV000487575 likely pathogenic Autosomal recessive nonsyndromic hearing loss 1A 2016-04-27 criteria provided, single submitter clinical testing
Counsyl RCV000410947 SCV000487576 likely pathogenic Autosomal dominant nonsyndromic hearing loss 3A 2016-04-27 criteria provided, single submitter clinical testing

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