ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.*3C>A (rs111033460)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037803 SCV000061465 likely benign not specified 2015-02-19 criteria provided, single submitter clinical testing c.*3C>A in the 3' UTR of GJB2: This variant is not expected to have clinical sig nificance because it has been identified in 0.9% (57/6612) of Finnish chromosome s by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbS NP rs111033460).
Illumina Clinical Services Laboratory,Illumina RCV000261121 SCV000382982 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318914 SCV000382983 likely benign Mutilating keratoderma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375828 SCV000382984 likely benign Hystrix-like ichthyosis with deafness 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293028 SCV000382985 likely benign Keratitis-Ichthyosis-Deafness Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350337 SCV000382986 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000505513 SCV000599767 likely benign Deafness, autosomal recessive 1A 2017-05-09 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000037803 SCV000702685 likely benign not specified 2016-10-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757330 SCV000885513 likely benign not provided 2017-07-10 criteria provided, single submitter clinical testing

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