ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.135-1G>A

dbSNP: rs1566137903
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001527445 SCV005632656 pathogenic Methylmalonic aciduria, cblB type 2024-02-23 criteria provided, single submitter clinical testing
Baumgartner lab, University Children's Hospital Zurich RCV001527445 SCV001738454 pathogenic Methylmalonic aciduria, cblB type 2021-06-01 no assertion criteria provided clinical testing

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