ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.495C>T (p.Tyr165=)

gnomAD frequency: 0.00001  dbSNP: rs139789100
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000347532 SCV000341302 uncertain significance not provided 2016-04-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001078636 SCV000638099 likely benign Carnitine palmitoyl transferase 1A deficiency 2023-11-30 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001078636 SCV001652872 likely benign Carnitine palmitoyl transferase 1A deficiency 2021-05-18 criteria provided, single submitter clinical testing

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