ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.495A>T (p.Thr165=)

dbSNP: rs1057523519
Minimum review status: Collection method:
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428458 SCV000532368 likely benign not specified 2016-10-13 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.
Invitae RCV003766390 SCV004637043 likely benign Carnitine palmitoyltransferase II deficiency 2023-09-25 criteria provided, single submitter clinical testing

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