Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037818 | SCV000061480 | likely benign | not specified | 2016-06-21 | criteria provided, single submitter | clinical testing | p.Asn62Asn in exon 2 of GJB2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, it is not located with in the splice consensus sequence. It has been identified in 4/66700 European ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs397516869). |
Invitae | RCV000942303 | SCV001088225 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000942303 | SCV002049496 | likely benign | not provided | 2021-03-26 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000037818 | SCV002103717 | likely benign | not specified | 2022-02-18 | criteria provided, single submitter | clinical testing |