ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.970G>A (p.Val324Ile)

dbSNP: rs1010220185
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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 RCV001169964 SCV001251675 uncertain significance Methylmalonic aciduria, cblA type 2020-05-03 criteria provided, single submitter clinical testing

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