ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.340+10C>G

gnomAD frequency: 0.00002  dbSNP: rs781682674
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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 RCV001248041 SCV001421502 likely benign Carnitine palmitoyltransferase II deficiency 2023-05-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001248041 SCV002090261 uncertain significance Carnitine palmitoyltransferase II deficiency 2021-04-15 no assertion criteria provided clinical testing

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