ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1910C>T (p.Ser637Phe)

gnomAD frequency: 0.00009  dbSNP: rs150459546
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 RCV000899458 SCV001043729 likely benign Carnitine palmitoyl transferase 1A deficiency 2024-11-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV000899458 SCV001452926 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2020-04-16 no assertion criteria provided clinical testing

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