ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.556-16_556-15insT

gnomAD frequency: 0.00414  dbSNP: rs539173750
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002165055 SCV002336070 benign Carnitine palmitoyl transferase 1A deficiency 2024-02-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002165055 SCV002506055 benign Carnitine palmitoyl transferase 1A deficiency 2023-09-22 criteria provided, single submitter clinical testing

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