ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1333-185A>G

gnomAD frequency: 0.30091  dbSNP: rs4715130
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000833353 SCV000975116 benign not provided 2018-06-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Pars Genome Lab RCV001530455 SCV001745292 benign Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2021-06-19 criteria provided, single submitter clinical testing

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