ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1422C>A (p.Ala474=)

gnomAD frequency: 0.00024  dbSNP: rs192779168
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427096 SCV000526700 likely benign not specified 2018-01-25 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.
Eurofins Ntd Llc (ga) RCV000711319 SCV000700475 uncertain significance not provided 2017-01-16 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711319 SCV000841660 likely benign not provided 2018-03-05 criteria provided, single submitter clinical testing
Invitae RCV001089331 SCV001019990 likely benign Carnitine palmitoyltransferase II deficiency 2024-01-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001089331 SCV001454130 likely benign Carnitine palmitoyltransferase II deficiency 2020-04-30 no assertion criteria provided clinical testing

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