ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.72C>G (p.His24Gln)

dbSNP: rs374686220
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000625574 SCV000746070 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2017-09-18 no assertion criteria provided clinical testing

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