ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.*6A>G

gnomAD frequency: 0.00001  dbSNP: rs1249235767
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Natera, Inc. RCV001279182 SCV001466264 uncertain significance Methylcrotonyl-CoA carboxylase deficiency 2020-08-21 no assertion criteria provided clinical testing

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