ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1845C>T (p.Phe615=)

gnomAD frequency: 0.00006  dbSNP: rs144747588
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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 RCV000926578 SCV001072141 likely benign Carnitine palmitoyl transferase 1A deficiency 2023-12-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV000926578 SCV002092945 likely benign Carnitine palmitoyl transferase 1A deficiency 2020-10-20 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003942873 SCV004761342 likely benign CPT1A-related disorder 2019-03-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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