ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.90G>T (p.Ser30=)

gnomAD frequency: 0.00041  dbSNP: rs559384926
Minimum review status: Collection method:
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000873231 SCV001015186 benign 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000873231 SCV001452995 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2020-01-24 no assertion criteria provided clinical testing

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