ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.387C>T (p.Cys129=)

gnomAD frequency: 0.00002  dbSNP: rs761110034
Minimum review status: Collection method:
Minimum conflict level:
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 RCV002069403 SCV002325366 likely benign 3-methylcrotonyl-CoA carboxylase 1 deficiency 2023-09-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277562 SCV001464522 uncertain significance Methylcrotonyl-CoA carboxylase deficiency 2020-07-16 no assertion criteria provided clinical testing

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