Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000317584 | SCV000372970 | benign | Dalmatian hypouricemia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000825089 | SCV000966335 | benign | not specified | 2016-03-21 | criteria provided, single submitter | clinical testing | p.Asn82Asn in exon 1 of SLC22A12: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 26.81% (2266/8452) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exa c.broadinstitute.org; dbSNP rs3825017). |
Invitae | RCV001512958 | SCV001720473 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001512958 | SCV001891890 | benign | not provided | 2018-11-12 | criteria provided, single submitter | clinical testing |