ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.522G>A (p.Ser174=)

gnomAD frequency: 0.00001  dbSNP: rs545625368
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000983917 SCV001131965 likely benign Methylmalonic aciduria, cblB type 2024-01-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000983917 SCV001268084 uncertain significance Methylmalonic aciduria, cblB type 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Natera, Inc. RCV000983917 SCV001455423 uncertain significance Methylmalonic aciduria, cblB type 2020-04-10 no assertion criteria provided clinical testing

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