ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1014C>T (p.Ile338=)

gnomAD frequency: 0.00001  dbSNP: rs760703487
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000908433 SCV001053195 likely benign 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271402 SCV001452528 likely benign Methylcrotonyl-CoA carboxylase deficiency 2020-09-16 no assertion criteria provided clinical testing

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