ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1876-1G>A

dbSNP: rs80356798
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000009634 SCV000486739 likely pathogenic Carnitine palmitoyl transferase 1A deficiency 2016-07-29 criteria provided, single submitter clinical testing
OMIM RCV000009634 SCV000029852 pathogenic Carnitine palmitoyl transferase 1A deficiency 2002-08-01 no assertion criteria provided literature only

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