ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.298_312del (p.Cys100_Ala104del)

dbSNP: rs780082584
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University Children's Hospital, University of Zurich RCV000509035 SCV000606785 pathogenic Methylmalonic aciduria, cblA type criteria provided, single submitter clinical testing
Baylor Genetics RCV000509035 SCV004193111 likely pathogenic Methylmalonic aciduria, cblA type 2023-04-14 criteria provided, single submitter clinical testing

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