ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.741G>A (p.Pro247=)

gnomAD frequency: 0.00003  dbSNP: rs1034760579
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001456642 SCV001660428 likely benign Carnitine palmitoyl transferase 1A deficiency 2023-09-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003405675 SCV004137113 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing CPT1A: BP4, BP7

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