ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1676+77A>C

gnomAD frequency: 0.21722  dbSNP: rs9381786
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591561 SCV000703980 benign not specified 2017-01-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000642161 SCV000763815 benign not provided 2025-01-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001530454 SCV001159026 benign Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2022-01-06 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001530454 SCV001745290 benign Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2021-06-19 criteria provided, single submitter clinical testing
GeneDx RCV000642161 SCV001841690 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27884173, 21671183)
Natera, Inc. RCV001276747 SCV001463275 benign Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency 2019-08-28 no assertion criteria provided clinical testing

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