ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs372197957
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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.
Natera, Inc. RCV001833738 SCV002086079 uncertain significance Autosomal recessive nonsyndromic hearing loss 1A 2021-02-04 no assertion criteria provided clinical testing

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