ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.738+36G>A

gnomAD frequency: 0.80304  dbSNP: rs12516456
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254543 SCV000314014 benign not specified criteria provided, single submitter clinical testing
Pars Genome Lab RCV001530406 SCV001745227 benign 3-methylcrotonyl-CoA carboxylase 2 deficiency 2021-06-19 criteria provided, single submitter clinical testing
GeneDx RCV001675757 SCV001894256 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001675757 SCV005301582 benign not provided criteria provided, single submitter not provided

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