ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1083+57C>T

gnomAD frequency: 0.37023  dbSNP: rs7769646
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pars Genome Lab RCV001530463 SCV001745300 benign Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2021-06-19 criteria provided, single submitter clinical testing
GeneDx RCV001673127 SCV001883247 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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