ClinVar Miner

Submissions for variant NM_001005360.2(DNM2):c.190G>A (p.Val64Ile) (rs144250390)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145912 SCV000193049 uncertain significance Peripheral neuropathy 2013-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120647 SCV000227176 likely benign not specified 2014-12-16 criteria provided, single submitter clinical testing
Invitae RCV000199355 SCV000252733 benign Charcot-Marie-Tooth disease, dominant intermediate B 2019-12-31 criteria provided, single submitter clinical testing
Center for Genetic Medicine Research,Children's National Medical Center RCV000120647 SCV000265817 uncertain significance not specified 2015-12-01 criteria provided, single submitter research
GeneDx RCV000120647 SCV000722387 benign not specified 2017-03-02 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 RCV001122144 SCV001280839 benign Myopathy, centronuclear, 1 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000199355 SCV001280840 benign Charcot-Marie-Tooth disease, dominant intermediate B 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ITMI RCV000120647 SCV000084808 not provided not specified 2013-09-19 no assertion provided reference population

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