ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.495C>T (p.Tyr165=) (rs139789100)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000347532 SCV000341302 uncertain significance not provided 2016-04-22 criteria provided, single submitter clinical testing
Invitae RCV000539599 SCV000638099 likely benign Carnitine palmitoyl transferase 1 deficiency 2016-12-05 criteria provided, single submitter clinical testing

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