Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000613400 | SCV000731285 | likely benign | not specified | 2016-12-22 | criteria provided, single submitter | clinical testing | p.Leu30Leu in exon 2 of SLC26A4: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.2% (1/544) of L atino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadin stitute.org; dbSNP rs566715839). |
Invitae | RCV000883697 | SCV001027024 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing |