ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.281+5G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) RCV003326695 SCV003927861 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2023-04-01 no assertion criteria provided clinical testing

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