ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.507A>G (p.Thr169=)

dbSNP: rs547886138
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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 RCV001404735 SCV001606644 likely benign Carnitine palmitoyl transferase 1A deficiency 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003399220 SCV004137114 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing CPT1A: BP4, BP7

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