ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.1399A>T (p.Ile467Phe)

gnomAD frequency: 0.00001  dbSNP: rs727504003
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
Eurofins Ntd Llc (ga) RCV000153464 SCV000202971 uncertain significance not provided 2015-11-12 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003133152 SCV003810796 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2021-03-03 criteria provided, single submitter clinical testing

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