ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.*1291_*1294del

dbSNP: rs886050025
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000354187 SCV000382872 uncertain significance Ichthyosis, hystrix-like, with hearing loss 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000259327 SCV000382873 uncertain significance Keratitis ichthyosis and deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000319140 SCV000382874 uncertain significance Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV004577827 SCV000382875 uncertain significance Hearing loss, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000274694 SCV000382876 uncertain significance Mutilating keratoderma 2016-06-14 criteria provided, single submitter clinical testing

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