ClinVar Miner

Submissions for variant NM_031407.7(HUWE1):c.10824C>G (p.Leu3608=)

gnomAD frequency: 0.00012  dbSNP: rs191407530
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192584 SCV000247578 likely benign not specified 2019-04-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000924229 SCV001069738 benign not provided 2023-05-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426924 SCV002730416 benign Inborn genetic diseases 2017-05-04 criteria provided, single submitter clinical testing This alteration is classified as 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.

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