ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.390C>T (p.Leu130=)

gnomAD frequency: 0.00010  dbSNP: rs188016546
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 RCV001398047 SCV001599813 likely benign Carnitine palmitoyl transferase 1A deficiency 2024-01-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001398047 SCV002092972 likely benign Carnitine palmitoyl transferase 1A deficiency 2020-02-04 no assertion criteria provided clinical testing

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