ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.2028+7C>G

gnomAD frequency: 0.00009  dbSNP: rs768465007
Minimum review status: Collection method:
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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
Invitae RCV001279745 SCV001600628 likely benign Carnitine palmitoyl transferase 1A deficiency 2024-01-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279745 SCV001466866 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2020-05-20 no assertion criteria provided clinical testing

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