ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.525G>A (p.Pro175=)

gnomAD frequency: 0.00007  dbSNP: rs371805329
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000876633 SCV001019229 likely benign Carnitine palmitoyl transferase 1A deficiency 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000876633 SCV002795384 likely benign Carnitine palmitoyl transferase 1A deficiency 2021-07-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV000876633 SCV001457998 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2020-02-13 no assertion criteria provided clinical testing

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