ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.2260C>T (p.Leu754=)

gnomAD frequency: 0.00041  dbSNP: rs144781827
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704751 SCV000719652 likely benign not provided 2018-08-20 criteria provided, single submitter clinical testing
Invitae RCV000900095 SCV001044398 likely benign Carnitine palmitoyl transferase 1A deficiency 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001704751 SCV004811189 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing CPT1A: BP4, BP7

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