ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.2001C>T (p.Leu667=)

gnomAD frequency: 0.00001  dbSNP: rs370172029
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001403793 SCV001605678 likely benign Carnitine palmitoyl transferase 1A deficiency 2023-12-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900382 SCV004709492 likely benign CPT1A-related disorder 2022-05-05 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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