ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.1773C>T (p.Ser591=)

gnomAD frequency: 0.00006  dbSNP: rs200651846
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
Invitae RCV000798520 SCV000938139 likely benign 3-methylcrotonyl-CoA carboxylase 1 deficiency 2023-07-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV000798520 SCV002079086 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2020-04-01 no assertion criteria provided clinical testing

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