ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.700_701del (p.Glu234fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003470057 SCV004194262 likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2023-09-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003470057 SCV005661964 likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2024-04-01 criteria provided, single submitter clinical testing

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