ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.606T>C (p.Tyr202=)

dbSNP: rs755830520
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000842628 SCV000984658 likely benign not provided 2018-05-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002064408 SCV002374847 likely benign Carnitine palmitoyltransferase II deficiency 2023-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456152 SCV004179367 likely benign Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453770 SCV004179368 likely benign Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453772 SCV004179369 likely benign Carnitine palmitoyl transferase II deficiency, neonatal form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453771 SCV004179370 likely benign Carnitine palmitoyl transferase II deficiency, myopathic form 2023-04-11 criteria provided, single submitter clinical testing

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