ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1344A>G (p.Gly448=)

gnomAD frequency: 0.00003  dbSNP: rs201238842
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001434481 SCV001637287 likely benign 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-01-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279173 SCV001466255 uncertain significance Methylcrotonyl-CoA carboxylase deficiency 2020-09-23 no assertion criteria provided clinical testing

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