ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1545G>C (p.Glu515Asp)

gnomAD frequency: 0.00011  dbSNP: rs140220101
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001230900 SCV001403400 likely benign 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-01-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707576 SCV005225679 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001279177 SCV001466259 uncertain significance Methylcrotonyl-CoA carboxylase deficiency 2020-09-01 no assertion criteria provided clinical testing

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