ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1409C>T (p.Ser470Phe) (rs386134222)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513827 SCV000610106 pathogenic not provided 2017-06-19 criteria provided, single submitter clinical testing
Counsyl RCV000022381 SCV000799728 uncertain significance Renal carnitine transport defect 2018-05-03 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000022381 SCV000043066 not provided Renal carnitine transport defect no assertion provided clinical testing

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