ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.631T>C (p.Tyr211His)

dbSNP: rs780314370
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002246709 SCV002519752 pathogenic Renal carnitine transport defect 2022-05-04 criteria provided, single submitter clinical testing
Giacomini Lab, University of California, San Francisco RCV002246709 SCV002576605 likely pathogenic Renal carnitine transport defect 2022-10-03 criteria provided, single submitter research

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