ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.415G>A (p.Asp139Asn)

gnomAD frequency: 0.00007  dbSNP: rs577131769
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000704966 SCV000833942 likely benign Renal carnitine transport defect 2024-01-31 criteria provided, single submitter clinical testing
Giacomini Lab, University of California, San Francisco RCV000704966 SCV002576637 uncertain significance Renal carnitine transport defect 2022-10-03 criteria provided, single submitter research
Natera, Inc. RCV001274333 SCV001458329 uncertain significance Decreased circulating carnitine concentration 2020-03-17 no assertion criteria provided clinical testing

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