ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1392C>T (p.Asn464=)

gnomAD frequency: 0.00005  dbSNP: rs138700687
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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
GeneDx RCV001697880 SCV000722366 likely benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000937847 SCV001083641 likely benign Carnitine palmitoyl transferase 1A deficiency 2024-01-14 criteria provided, single submitter clinical testing

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