ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.402G>A (p.Ser134=)

gnomAD frequency: 0.00004  dbSNP: rs756766385
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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 RCV000815261 SCV000955710 likely benign Methylmalonic aciduria, cblB type 2024-10-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000815261 SCV005632639 likely benign Methylmalonic aciduria, cblB type 2024-03-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000815261 SCV001459240 uncertain significance Methylmalonic aciduria, cblB type 2020-09-16 no assertion criteria provided clinical testing
GenomeConnect - Invitae Patient Insights Network RCV000815261 SCV001749687 not provided Methylmalonic aciduria, cblB type no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 08-28-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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