ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1769G>A (p.Ser590Asn)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University Hospital Muenster RCV004584521 SCV002577885 uncertain significance See cases 2021-12-21 criteria provided, single submitter clinical testing ACMG categories: PM2,PP3
CeGaT Center for Human Genetics Tuebingen RCV003408210 SCV004128147 uncertain significance not provided 2023-08-01 criteria provided, single submitter clinical testing CPT2: PM2, PM3:Supporting
Genome-Nilou Lab RCV003456283 SCV004178302 uncertain significance Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454077 SCV004178303 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454079 SCV004178304 uncertain significance Carnitine palmitoyl transferase II deficiency, neonatal form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454078 SCV004178305 uncertain significance Carnitine palmitoyl transferase II deficiency, myopathic form 2023-04-11 criteria provided, single submitter clinical testing

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