ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.734-74G>A

gnomAD frequency: 0.28813  dbSNP: rs11721510
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pars Genome Lab RCV001527525 SCV001738588 benign Methylmalonic aciduria, cblA type 2021-06-15 criteria provided, single submitter clinical testing
GeneDx RCV001673115 SCV001891932 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001673115 SCV005305394 benign not provided criteria provided, single submitter not provided

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