ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.162T>C (p.Asn54=)

gnomAD frequency: 0.00005  dbSNP: rs774812912
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000924314 SCV001069825 likely benign 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-01-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278391 SCV001465404 uncertain significance Methylcrotonyl-CoA carboxylase deficiency 2020-09-10 no assertion criteria provided clinical testing

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