ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.462G>T (p.Glu154Asp)

dbSNP: rs1392513631
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baumgartner lab, University Children's Hospital Zurich RCV001527451 SCV001738461 pathogenic Methylmalonic aciduria, cblB type 2021-06-01 no assertion criteria provided clinical testing

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