ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.543G>A (p.Ala181=)

gnomAD frequency: 0.00001  dbSNP: rs145411521
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001496888 SCV001701602 likely benign Methylmalonic aciduria, cblB type 2023-06-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001496888 SCV002088691 likely benign Methylmalonic aciduria, cblB type 2020-05-18 no assertion criteria provided clinical testing

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