ClinVar Miner

Submissions for variant NM_144585.4(SLC22A12):c.412G>C (p.Val138Leu)

dbSNP: rs149722479
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001533015 SCV005684566 uncertain significance Dalmatian hypouricemia 2024-03-19 criteria provided, single submitter clinical testing
Felix Claverie-Martin Laboratory, Hospital Universitario Nuestra Senora de Candelaria RCV001533015 SCV001745893 pathogenic Dalmatian hypouricemia no assertion criteria provided clinical testing

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