ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1536C>T (p.Cys512=)

gnomAD frequency: 0.00001  dbSNP: rs199573389
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000946011 SCV001092095 likely benign Carnitine palmitoyltransferase II deficiency 2023-12-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004597929 SCV005093530 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing CPT2: BP4, BP7
Natera, Inc. RCV000946011 SCV001456150 uncertain significance Carnitine palmitoyltransferase II deficiency 2020-02-13 no assertion criteria provided clinical testing

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