ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.10T>C (p.Cys4Arg)

gnomAD frequency: 0.00104  dbSNP: rs146668962
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000883287 SCV001026582 likely benign Methylmalonic aciduria, cblB type 2024-01-27 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000883287 SCV003808847 uncertain significance Methylmalonic aciduria, cblB type 2022-04-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000883287 SCV001459542 benign Methylmalonic aciduria, cblB type 2020-04-10 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003910420 SCV004719651 likely benign MMAB-related disorder 2022-07-12 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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