ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.694-10C>T

gnomAD frequency: 0.00007  dbSNP: rs201198921
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721388 SCV000532237 likely benign not provided 2021-01-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000936744 SCV001082516 likely benign Carnitine palmitoyl transferase 1A deficiency 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942440 SCV004761455 likely benign CPT1A-related disorder 2023-05-27 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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