ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.738+132C>T

gnomAD frequency: 0.08077  dbSNP: rs77085070
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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 RCV001530423 SCV001745244 likely benign 3-methylcrotonyl-CoA carboxylase 2 deficiency 2021-06-19 criteria provided, single submitter clinical testing
GeneDx RCV001540504 SCV001758395 benign not provided 2018-08-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001540504 SCV005225612 likely benign not provided criteria provided, single submitter not provided

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