ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.*1C>T (rs111033327)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037802 SCV000061464 likely benign not specified 2011-06-03 criteria provided, single submitter clinical testing The *1C>T variant was identified in the 3?UTR of GJB2. This variant is located 1 base after the termination codon. Although, this variant has been detected in i ndividuals with hearing loss, it has never been identified with a second pathoge nic GJB2 variant (Frei 2005, Samanich 2007, Tang 2006, Rabionet unpublished). In addition, it was identified at an equal frequency (0.5%) in control chromosomes (Samanich 2007). In summary, the *1C>T variant is not expected to have clinical or pathological significance because it is not predicted to affect the transcri pt and has been found at an equal frequency in controls.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000586188 SCV000112256 uncertain significance not provided 2014-10-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000037802 SCV000193152 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000388730 SCV000382987 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000296648 SCV000382988 likely benign Hystrix-like ichthyosis with deafness 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344717 SCV000382989 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392583 SCV000382990 likely benign Mutilating keratoderma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309742 SCV000382991 likely benign Keratitis-Ichthyosis-Deafness Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586188 SCV000698222 benign not provided 2016-05-31 criteria provided, single submitter clinical testing
Counsyl RCV000674792 SCV000800190 uncertain significance Deafness, autosomal recessive 1A 2018-05-24 criteria provided, single submitter clinical testing

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