ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1459-6dup

dbSNP: rs767372374
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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 RCV001273374 SCV001617977 likely benign Carnitine palmitoyl transferase 1A deficiency 2021-11-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273374 SCV001456361 likely benign Carnitine palmitoyl transferase 1A deficiency 2020-09-16 no assertion criteria provided clinical testing

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