ClinVar Miner

Submissions for variant NM_031407.7(HUWE1):c.504+5G>A

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002351418 SCV002646331 likely benign Inborn genetic diseases 2017-11-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV003096583 SCV003488241 benign not provided 2022-10-12 criteria provided, single submitter clinical testing
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV003126245 SCV003804049 uncertain significance Autism spectrum disorder 2022-08-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003096583 SCV005433797 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing HUWE1: BS2

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