ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.592G>T (p.Val198Leu)

dbSNP: rs757979350
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000781949 SCV000920393 uncertain significance Renal carnitine transport defect 2019-01-02 criteria provided, single submitter clinical testing
Giacomini Lab, University of California, San Francisco RCV000781949 SCV002576593 likely benign Renal carnitine transport defect 2022-10-03 criteria provided, single submitter research

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