Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Integrated Genetics/Laboratory Corporation of America | RCV000781417 | SCV000919433 | likely benign | not specified | 2019-08-28 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000781417 | SCV000967229 | likely benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | p.Asn170Asn in exon 2 of GJB2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 1/8638 East Asian c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs763068053). |