ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys) (rs2229291)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078115 SCV000109953 benign not specified 2013-08-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000202443 SCV000358102 likely benign Carnitine palmitoyltransferase II deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000444353 SCV000510981 benign not provided 2017-02-07 criteria provided, single submitter clinical testing
Invitae RCV000202443 SCV000632583 likely benign Carnitine palmitoyltransferase II deficiency 2020-12-05 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578014 SCV000679761 benign Carnitine palmitoyltransferase II deficiency, infantile; Carnitine palmitoyltransferase II deficiency, lethal neonatal 2017-08-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000444353 SCV001143646 benign not provided 2019-03-15 criteria provided, single submitter clinical testing
GeneReviews RCV000202443 SCV000153652 benign Carnitine palmitoyltransferase II deficiency 2017-03-16 no assertion criteria provided literature only

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