ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.729T>C (p.Ala243=)

dbSNP: rs886058208
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000389538 SCV000442295 uncertain significance Methylcrotonyl-CoA carboxylase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002520110 SCV002953273 likely benign 3-methylcrotonyl-CoA carboxylase 1 deficiency 2023-08-04 criteria provided, single submitter clinical testing

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