ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.692G>A (p.Arg231Gln)

gnomAD frequency: 0.00006  dbSNP: rs369369333
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000799025 SCV000938672 likely benign Carnitine palmitoyltransferase II deficiency 2025-01-06 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144609 SCV003829967 uncertain significance not provided 2022-07-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005021206 SCV005647753 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form; Encephalopathy, acute, infection-induced, susceptibility to, 4 2024-04-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000799025 SCV001454120 uncertain significance Carnitine palmitoyltransferase II deficiency 2020-01-17 no assertion criteria provided clinical testing

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