ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.823G>A (p.Ala275Thr)

gnomAD frequency: 0.05682  dbSNP: rs2229738
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180224 SCV000232620 benign not specified 2014-12-24 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000055868 SCV000743873 benign Carnitine palmitoyl transferase 1A deficiency 2015-08-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000055868 SCV000883678 benign Carnitine palmitoyl transferase 1A deficiency 2023-10-23 criteria provided, single submitter clinical testing
Invitae RCV000055868 SCV001720276 benign Carnitine palmitoyl transferase 1A deficiency 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000055868 SCV001737345 benign Carnitine palmitoyl transferase 1A deficiency 2021-06-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000180224 SCV002050932 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
GeneReviews RCV000055868 SCV000086871 not provided Carnitine palmitoyl transferase 1A deficiency no assertion provided literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000055868 SCV000733095 benign Carnitine palmitoyl transferase 1A deficiency no assertion criteria provided clinical testing
Natera, Inc. RCV000055868 SCV001460477 benign Carnitine palmitoyl transferase 1A deficiency 2020-09-16 no assertion criteria provided clinical testing

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