ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.633C>T (p.Val211=)

gnomAD frequency: 0.00005  dbSNP: rs775908039
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000942838 SCV001088773 likely benign Carnitine palmitoyl transferase 1A deficiency 2024-01-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960550 SCV004775842 likely benign CPT1A-related disorder 2020-02-12 criteria provided, single submitter 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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