ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1251T>C (p.Phe417=)

gnomAD frequency: 0.92020  dbSNP: rs2228502
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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) RCV000153103 SCV000202560 benign not specified 2016-01-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001520685 SCV001729853 benign Carnitine palmitoyl transferase 1A deficiency 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001520685 SCV001749220 benign Carnitine palmitoyl transferase 1A deficiency 2021-07-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718068 SCV005321456 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001520685 SCV002092956 benign Carnitine palmitoyl transferase 1A deficiency 2019-11-16 no assertion criteria provided clinical testing

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