ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.365C>T (p.Ser122Phe)

gnomAD frequency: 0.00014  dbSNP: rs192275019
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518089 SCV000613022 uncertain significance not specified 2016-10-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000536664 SCV000632609 likely benign Carnitine palmitoyltransferase II deficiency 2024-01-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001532537 SCV001748148 uncertain significance not provided 2021-05-01 criteria provided, single submitter clinical testing
GeneDx RCV001532537 SCV002546760 uncertain significance not provided 2022-07-05 criteria provided, single submitter clinical testing Reported in a patient with acute necrotizing encephalopathy who also harbors a potentially disease-causing variant in the RANBP2 gene (Iyer et al., 2020); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 26010953, 32102593)
Revvity Omics, Revvity RCV001532537 SCV003829969 uncertain significance not provided 2023-11-17 criteria provided, single submitter clinical testing

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