ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1575-64A>G

gnomAD frequency: 0.69711  dbSNP: rs7443786
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pars Genome Lab RCV001530430 SCV001745253 benign 3-methylcrotonyl-CoA carboxylase 2 deficiency 2021-06-19 criteria provided, single submitter clinical testing
GeneDx RCV001673126 SCV001887290 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001673126 SCV005301597 benign not provided criteria provided, single submitter not provided

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