ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.152+56C>A

dbSNP: rs72673121
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001533750 SCV001750539 benign Carnitine palmitoyl transferase II deficiency, severe infantile form 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533751 SCV001750540 benign Carnitine palmitoyl transferase II deficiency, neonatal form 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001712980 SCV001943604 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001712980 SCV005284611 benign not provided criteria provided, single submitter not provided

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