ClinVar Miner

Submissions for variant NM_031407.7(HUWE1):c.12903= (p.Thr4301=) (rs477171)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716591 SCV000847433 benign History of neurodevelopmental disorder 2016-07-29 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
Invitae RCV000897989 SCV001042171 benign not provided 2019-12-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117250 SCV000151424 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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