ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.650G>T (p.Ser217Ile)

dbSNP: rs2136192612
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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 RCV001527456 SCV001738466 pathogenic Methylmalonic aciduria, cblB type 2021-06-01 no assertion criteria provided clinical testing

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