ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1439A>G (p.Asn480Ser)

gnomAD frequency: 0.00266  dbSNP: rs115328026
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697347 SCV000715516 likely benign not provided 2018-06-07 criteria provided, single submitter clinical testing
Invitae RCV000878909 SCV001021900 likely benign 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-01-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV000878909 SCV004236321 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2023-07-10 criteria provided, single submitter clinical testing

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