ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1939A>G (p.Met647Val) (rs1799822)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078120 SCV000109958 benign not specified 2015-08-04 criteria provided, single submitter clinical testing
GeneDx RCV000078120 SCV000168035 benign not specified 2013-05-29 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.
Illumina Clinical Services Laboratory,Illumina RCV000202533 SCV000358108 benign Carnitine palmitoyltransferase II deficiency 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Phosphorus, Inc. RCV000578093 SCV000679762 benign Carnitine palmitoyltransferase II deficiency, infantile; Carnitine palmitoyltransferase II deficiency, lethal neonatal 2017-08-01 criteria provided, single submitter clinical testing
Mendelics RCV000986323 SCV001135293 benign Carnitine palmitoyltransferase II deficiency, infantile 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000202533 SCV001717866 benign Carnitine palmitoyltransferase II deficiency 2020-12-07 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000986323 SCV001750235 benign Carnitine palmitoyltransferase II deficiency, infantile 2021-07-01 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001533573 SCV001750236 benign Carnitine palmitoyltransferase II deficiency, lethal neonatal 2021-07-01 criteria provided, single submitter clinical testing
GeneReviews RCV000202533 SCV000153654 benign Carnitine palmitoyltransferase II deficiency 2017-03-16 no assertion criteria provided literature only
Natera, Inc. RCV000202533 SCV001454250 benign Carnitine palmitoyltransferase II deficiency 2020-09-16 no assertion criteria provided clinical testing

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