ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.587G>A (p.Arg196Gln) (rs144389160)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University Children's Hospital, University of Zurich RCV000509041 SCV000606800 uncertain significance Vitamin B12-responsive methylmalonic acidemia type cblA criteria provided, single submitter clinical testing Found in combination with mutation NM_172250.2:c.733+1G>A in same allele

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