ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1806T>C (p.Phe602=) (rs147953465)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082115 SCV000632597 benign Carnitine palmitoyltransferase II deficiency 2020-12-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000596578 SCV000702018 uncertain significance not provided 2016-09-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001082115 SCV001253051 uncertain significance 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001264437 SCV001442588 benign not specified 2020-10-28 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001449948 SCV001653453 likely benign Carnitine palmitoyltransferase II deficiency, lethal neonatal 2021-05-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001082115 SCV001454245 benign Carnitine palmitoyltransferase II deficiency 2020-09-16 no assertion criteria provided clinical testing

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