ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.738+9A>G

gnomAD frequency: 0.00033  dbSNP: rs776559643
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730706 SCV000858466 uncertain significance not provided 2017-12-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082715 SCV001131936 likely benign 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-01-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001082715 SCV001453000 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2019-11-11 no assertion criteria provided clinical testing

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