ClinVar Miner

Submissions for variant NM_144585.4(SLC22A12):c.426T>C (p.His142=) (rs11231825)

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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 RCV000286659 SCV000372975 benign Familial renal hypouricemia 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized 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; dbSNP rs11231825).

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