Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and 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. |
Natera, |
RCV001833738 | SCV002086079 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 1A | 2021-02-04 | no assertion criteria provided | clinical testing |