ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.753+3A>G

dbSNP: rs776400008
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV003983778 SCV005440580 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency criteria provided, single submitter clinical testing PM2_Supporting+PM3_Strong+PP4+PP3
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital RCV003983778 SCV004800884 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency no assertion criteria provided clinical testing PM2_P+PM3_S+PP3+PP4

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