ClinVar Miner

Submissions for variant NM_001160372.4(TRAPPC9):c.2797G>A (p.Gly933Ser) (rs114949291)

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Total submissions: 4
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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 RCV000224718 SCV000280745 likely benign not provided 2015-08-26 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000376511 SCV000472176 uncertain significance Intellectual Disability, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715913 SCV000846745 benign History of neurodevelopmental disorder 2016-10-03 criteria provided, single submitter clinical testing In silico models in agreement (benign) ;General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Genetic Services Laboratory,University of Chicago RCV000118675 SCV000153089 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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