ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.205A>G (p.Ile69Val) (rs115923556)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000223962 SCV000280772 uncertain significance not provided 2015-02-03 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000223962 SCV000331463 uncertain significance not provided 2015-07-08 criteria provided, single submitter clinical testing
Invitae RCV001085527 SCV000641776 likely benign Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000223962 SCV000978066 likely benign not provided 2018-05-25 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.
Illumina Clinical Services Laboratory,Illumina RCV001085527 SCV001322760 uncertain significance Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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