Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV001195379 | SCV001365728 | uncertain significance | not specified | 2019-04-26 | criteria provided, single submitter | clinical testing | The c.-223C>G variant in GJB2 has not been previously reported in individuals with hearing loss, but has been identified in 0.1% (1/848) of Latino chromosomes and in 0.01% (1/8654) of African chromosomes by gnomAD (http://gnomad.broadinstitute.org). This variant is located in the 5' UTR and it is unknown whether this variant could disrupt the GJB2 gene. In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied: none. |