ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.2142+9G>A

gnomAD frequency: 0.00005  dbSNP: rs753764564
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434869 SCV000528347 likely benign not specified 2016-05-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000877682 SCV001020458 likely benign Carnitine palmitoyl transferase 1A deficiency 2024-01-29 criteria provided, single submitter clinical testing

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