ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.336C>T (p.Thr112=)

gnomAD frequency: 0.00039  dbSNP: rs61731902
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000905804 SCV001050402 benign Carnitine palmitoyl transferase 1A deficiency 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000905804 SCV002047955 likely benign Carnitine palmitoyl transferase 1A deficiency 2022-03-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004584824 SCV005075315 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing CPT1A: BP4, BP7
Natera, Inc. RCV000905804 SCV002092974 likely benign Carnitine palmitoyl transferase 1A deficiency 2019-10-24 no assertion criteria provided clinical testing

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