ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.982C>T (p.Arg328Trp)

gnomAD frequency: 0.00554  dbSNP: rs117089191
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000080017 SCV000111910 benign not specified 2012-10-16 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224183 SCV000280776 likely benign not provided 2015-11-24 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Illumina Laboratory Services,Illumina RCV001083811 SCV000393950 likely benign MPI-CDG 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000224183 SCV000522331 benign not provided 2021-07-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23806237)
Invitae RCV001083811 SCV000645200 benign MPI-CDG 2021-12-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000080017 SCV002064641 likely benign not specified 2021-02-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000224183 SCV002563268 benign not provided 2022-07-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001083811 SCV002089788 benign MPI-CDG 2019-11-15 no assertion criteria provided clinical testing

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