ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1500G>A (p.Glu500=)

gnomAD frequency: 0.00001  dbSNP: rs760474415
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001278057 SCV002494681 likely benign Carnitine palmitoyl transferase 1A deficiency 2023-08-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278057 SCV001465050 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2020-04-16 no assertion criteria provided clinical testing

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