ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1488+10del

gnomAD frequency: 0.00002  dbSNP: rs767400522
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001423314 SCV001625889 likely benign 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279176 SCV001466258 uncertain significance Methylcrotonyl-CoA carboxylase deficiency 2020-09-29 no assertion criteria provided clinical testing

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