ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.1229T>A (p.Leu410Ter)

dbSNP: rs1728203978
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV001169965 SCV001251676 pathogenic Methylmalonic aciduria, cblA type 2020-05-03 criteria provided, single submitter clinical testing

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