ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1025T>C (p.Met342Thr) (rs144658100)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000427828 SCV000510627 uncertain significance not provided 2017-01-31 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Invitae RCV001079544 SCV000632582 likely benign Carnitine palmitoyltransferase II deficiency 2020-12-04 criteria provided, single submitter clinical testing
Counsyl RCV000667275 SCV000791697 uncertain significance Carnitine palmitoyltransferase II deficiency, infantile 2017-05-26 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763959 SCV000894910 uncertain significance Carnitine palmitoyltransferase II deficiency, infantile; Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced; Carnitine palmitoyltransferase II deficiency, lethal neonatal; Encephalopathy, acute, infection-induced, 4, susceptibility to 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001079544 SCV001256742 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.
Natera, Inc. RCV001079544 SCV001454126 uncertain significance Carnitine palmitoyltransferase II deficiency 2019-12-30 no assertion criteria provided clinical testing

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