ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1353-47G>T

gnomAD frequency: 0.92001  dbSNP: rs3019576
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001533355 SCV001749219 benign Carnitine palmitoyl transferase 1A deficiency 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001647370 SCV001856005 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001647370 SCV005321455 benign not provided criteria provided, single submitter not provided

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