Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000219440 | SCV000270851 | likely benign | not specified | 2016-01-19 | criteria provided, single submitter | clinical testing | p.Asn649Asn in exon 17 of SLC26A4: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1/11530 Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs761139326). |
Invitae | RCV000928105 | SCV001073709 | likely benign | not provided | 2023-11-18 | criteria provided, single submitter | clinical testing |