ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.963G>A (p.Glu321=)

gnomAD frequency: 0.08543  dbSNP: rs2229737
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079919 SCV000111802 benign not specified 2016-03-16 criteria provided, single submitter clinical testing
GeneDx RCV000079919 SCV000168031 benign not specified 2013-11-01 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 RCV001275356 SCV001722522 benign Carnitine palmitoyl transferase 1A deficiency 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001275356 SCV001749222 benign Carnitine palmitoyl transferase 1A deficiency 2021-07-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275356 SCV001460475 benign Carnitine palmitoyl transferase 1A deficiency 2020-09-16 no assertion criteria provided clinical testing

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