ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.3778_3780GAG[1] (p.Glu1261del) (rs149716029)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082265 SCV000114214 benign not specified 2013-01-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000118114 SCV000152441 uncertain significance not provided 2013-06-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000082265 SCV000152451 benign not specified 2014-08-14 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082265 SCV000314714 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000082265 SCV000565480 likely benign not specified 2015-08-31 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000118114 SCV000610768 likely benign not provided 2017-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719349 SCV000850215 benign History of neurodevelopmental disorder 2018-12-04 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;Other data supporting benign classification;General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Mendelics RCV000989765 SCV001140318 likely benign Smith-Magenis syndrome 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000118114 SCV001145253 benign not provided 2019-04-08 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001196996 SCV001367631 benign Cardiomyopathy; Global developmental delay; Waddling gait; Short stature; Choanal atresia; Microcephaly; Delayed cranial suture closure; Proximal muscle weakness in lower limbs; Small hand 2018-10-31 criteria provided, single submitter clinical testing This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2. This variant was detected in heterozygous state.

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