ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1106A>C (p.His369Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Giacomini Lab, University of California, San Francisco RCV002286655 SCV002576664 uncertain significance Renal carnitine transport defect 2022-10-03 criteria provided, single submitter research

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