ClinVar Miner

Submissions for variant NM_001199753.2(CPT1C):c.333C>T (p.Ala111=)

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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 RCV005101850 SCV005833246 likely benign Hereditary spastic paraplegia 73 2024-11-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003943944 SCV004765010 likely benign CPT1C-related disorder 2019-02-21 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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