ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.556-19T>G

gnomAD frequency: 0.00984  dbSNP: rs117610994
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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) RCV000079918 SCV000111801 benign not specified 2014-04-01 criteria provided, single submitter clinical testing
GeneDx RCV000079918 SCV000238768 benign not specified 2014-07-17 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 RCV001516155 SCV001724387 benign Carnitine palmitoyl transferase 1A deficiency 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001516155 SCV001749224 benign Carnitine palmitoyl transferase 1A deficiency 2021-07-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001516155 SCV003799604 benign Carnitine palmitoyl transferase 1A deficiency 2023-11-09 criteria provided, single submitter clinical testing

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