ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.362C>T (p.Ala121Val)

dbSNP: rs1367329678
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001578669 SCV001805937 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2021-07-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277564 SCV001464524 uncertain significance Methylcrotonyl-CoA carboxylase deficiency 2020-08-14 no assertion criteria provided clinical testing

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