ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.171A>G (p.Ala57=)

gnomAD frequency: 0.00024  dbSNP: rs758539295
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 RCV000959062 SCV001105951 likely benign Carnitine palmitoyl transferase 1A deficiency 2024-01-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV000959062 SCV002092977 likely benign Carnitine palmitoyl transferase 1A deficiency 2020-03-28 no assertion criteria provided clinical testing

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