ClinVar Miner

Submissions for variant NM_031407.7(HUWE1):c.6031-4T>A (rs139283158)

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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 RCV000224423 SCV000280957 benign not provided 2015-06-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716479 SCV000847320 benign History of neurodevelopmental disorder 2014-12-13 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;Co-occurence with a mutation in another gene that clearly explains a proband's phenotype
Invitae RCV000224423 SCV001108871 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117254 SCV000151428 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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