ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.557A>G (p.Tyr186Cys)

gnomAD frequency: 0.00001  dbSNP: rs759188040
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Total submissions: 2
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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 RCV000224865 SCV000281455 uncertain significance not provided 2015-06-25 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Natera, Inc. RCV001833236 SCV002092969 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2019-10-28 no assertion criteria provided clinical testing

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