ClinVar Miner

Submissions for variant NM_031407.7(HUWE1):c.3966G>A (p.Leu1322=)

gnomAD frequency: 0.00131  dbSNP: rs140959967
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194964 SCV000247586 uncertain significance not specified 2015-04-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314821 SCV000848574 likely benign Inborn genetic diseases 2016-12-23 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 RCV000897990 SCV001042172 benign not provided 2023-12-12 criteria provided, single submitter clinical testing
GeneDx RCV000897990 SCV001859849 benign not provided 2020-09-02 criteria provided, single submitter clinical testing

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