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: 6
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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.
Labcorp Genetics (formerly Invitae), Labcorp 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
Breakthrough Genomics, Breakthrough Genomics RCV004717946 SCV005321461 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001275356 SCV001460475 benign Carnitine palmitoyl transferase 1A deficiency 2020-09-16 no assertion criteria provided clinical testing

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