ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.556-12del

dbSNP: rs113037606
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079916 SCV000111799 benign not specified 2016-03-16 criteria provided, single submitter clinical testing
GeneDx RCV000079916 SCV000238769 benign not specified 2014-06-16 criteria provided, single submitter clinical testing The variant is found in CPT1A panel(s).
Labcorp Genetics (formerly Invitae), Labcorp RCV002055145 SCV002405948 benign Carnitine palmitoyl transferase 1A deficiency 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002055145 SCV002506088 benign Carnitine palmitoyl transferase 1A deficiency 2023-10-03 criteria provided, single submitter clinical testing

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