ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1737C>T (p.Tyr579=)

gnomAD frequency: 0.00006  dbSNP: rs957344521
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000872752 SCV001014617 likely benign Carnitine palmitoyltransferase II deficiency 2024-01-07 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000872752 SCV001253049 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Natera, Inc. RCV000872752 SCV001456152 uncertain significance Carnitine palmitoyltransferase II deficiency 2020-01-24 no assertion criteria provided clinical testing

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