ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.-22-7T>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV001192517 SCV001360713 uncertain significance not specified 2019-01-10 criteria provided, single submitter clinical testing Variant summary: The GJB2 variant, c.-22-7T>C is located in the 5' UTR of the gene. The variant allele was found at a frequency of 4.1e-06 in 243744 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.-22-7T>C in individuals affected with Non-Syndromic Hearing Loss and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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