ClinVar Miner

Submissions for variant NM_144585.4(SLC22A12):c.258C>T (p.His86=)

gnomAD frequency: 0.50802  dbSNP: rs3825016
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000372062 SCV000372971 benign Dalmatian hypouricemia 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000607529 SCV000711939 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.His86His 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 69.98% (45710/6532 0) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exa c.broadinstitute.org; dbSNP rs3825016).
Invitae RCV001518721 SCV001727469 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001518721 SCV001950633 benign not provided 2018-11-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16385546)
Genome-Nilou Lab RCV000372062 SCV002055726 benign Dalmatian hypouricemia 2021-07-15 criteria provided, single submitter clinical testing

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