ClinVar Miner

Submissions for variant NM_144585.4(SLC22A12):c.1248A>G (p.Ala416=) (rs1630320)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000313264 SCV000372984 benign Familial renal hypouricemia 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000599779 SCV000711941 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Ala416Ala in exon 7 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 99.97% (64877/648 94) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://ex ac.broadinstitute.org; dbSNP rs1630320).

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