ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.*111C>T (rs7329857)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029941 SCV000052596 benign Deafness, autosomal recessive 1A 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
Illumina Clinical Services Laboratory,Illumina RCV000373776 SCV000382967 benign Mutilating keratoderma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281606 SCV000382968 benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348316 SCV000382969 benign Hystrix-like ichthyosis with deafness 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405860 SCV000382970 benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313634 SCV000382971 benign Keratitis-Ichthyosis-Deafness Syndrome 2016-06-14 criteria provided, single submitter clinical testing

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