ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.1486T>C (p.Leu496=)

gnomAD frequency: 0.00006  dbSNP: rs768167603
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 RCV001826930 SCV002375578 likely benign 3-methylcrotonyl-CoA carboxylase 1 deficiency 2023-08-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826930 SCV002079093 likely benign 3-methylcrotonyl-CoA carboxylase 1 deficiency 2020-11-05 no assertion criteria provided clinical testing

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