ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.349-1G>C

dbSNP: rs864309510
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000202577 SCV000799634 likely pathogenic Methylmalonic aciduria, cblB type 2018-05-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV000202577 SCV004193130 pathogenic Methylmalonic aciduria, cblB type 2023-10-28 criteria provided, single submitter clinical testing
OMIM RCV000202577 SCV000257521 pathogenic Methylmalonic aciduria, cblB type 2010-09-01 no assertion criteria provided literature only

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