Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000286659 | SCV000372975 | benign | Dalmatian hypouricemia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000611294 | SCV000711940 | benign | not specified | 2016-03-21 | criteria provided, single submitter | clinical testing | p.His142His in exon 2 of SLC22A12: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wi thin the splice consensus sequence, and has been identified in 69.92% (46661/667 38) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://ex ac.broadinstitute.org; dbSNP rs11231825). |
Invitae | RCV001518722 | SCV001727470 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001518722 | SCV001848957 | benign | not provided | 2018-11-12 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 16385546, 20714133) |
Genome- |
RCV000286659 | SCV002055727 | benign | Dalmatian hypouricemia | 2021-07-15 | criteria provided, single submitter | clinical testing |