ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.218A>G (p.Asn73Ser)

gnomAD frequency: 0.00016  dbSNP: rs146159244
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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 RCV001471981 SCV001676105 likely benign Carnitine palmitoyltransferase II deficiency 2023-12-29 criteria provided, single submitter clinical testing
GeneDx RCV002280183 SCV002568695 uncertain significance not provided 2022-02-23 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function

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