ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.*1291_*1294del (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 Clinical Services Laboratory,Illumina RCV000354187 SCV000382872 uncertain significance Hystrix-like ichthyosis with deafness 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000259327 SCV000382873 uncertain significance Keratitis ichthyosis and deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319140 SCV000382874 uncertain significance Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355379 SCV000382875 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274694 SCV000382876 uncertain significance Mutilating keratoderma 2016-06-14 criteria provided, single submitter clinical testing

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