ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.2178T>C (p.Leu726=)

gnomAD frequency: 0.00006  dbSNP: rs200501379
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 RCV000931074 SCV001076737 likely benign Carnitine palmitoyl transferase 1A deficiency 2024-01-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV000931074 SCV001466865 likely benign Carnitine palmitoyl transferase 1A deficiency 2020-09-14 no assertion criteria provided clinical testing

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