ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1206A>G (p.Gln402=)

gnomAD frequency: 0.00003  dbSNP: rs749406136
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002486052 SCV002790535 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2022-01-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279172 SCV001466254 uncertain significance Methylcrotonyl-CoA carboxylase deficiency 2020-10-05 no assertion criteria provided clinical testing

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