ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.884A>G (p.Asn295Ser)

gnomAD frequency: 0.00001  dbSNP: rs1368817393
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001294936 SCV001483836 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2021-09-01 criteria provided, single submitter clinical testing

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