ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.970-2A>T

dbSNP: rs1553959113
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671130 SCV000796076 pathogenic Methylmalonic aciduria, cblA type 2017-12-08 criteria provided, single submitter clinical testing

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