ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.341-16T>C

gnomAD frequency: 0.00176  dbSNP: rs180830030
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078122 SCV000109960 uncertain significance not provided 2014-07-02 criteria provided, single submitter clinical testing
GeneDx RCV000078122 SCV001837431 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Invitae RCV002055091 SCV002365046 likely benign Carnitine palmitoyltransferase II deficiency 2024-01-31 criteria provided, single submitter clinical testing

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