ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.1644G>A (p.Ser548=)

gnomAD frequency: 0.00002  dbSNP: rs150835353
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 RCV003600407 SCV004550812 likely benign 3-methylcrotonyl-CoA carboxylase 1 deficiency 2023-12-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280053 SCV001467200 uncertain significance Methylcrotonyl-CoA carboxylase deficiency 2020-10-29 no assertion criteria provided clinical testing

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