ClinVar Miner

Submissions for variant NM_031407.7(HUWE1):c.654T>C (p.Ser218=)

gnomAD frequency: 0.00050  dbSNP: rs148129382
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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 RCV000193117 SCV000247590 uncertain significance not specified 2014-09-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317689 SCV000850650 benign Inborn genetic diseases 2017-04-27 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000970027 SCV001117581 benign not provided 2023-11-27 criteria provided, single submitter clinical testing
GeneDx RCV000970027 SCV001845361 benign not provided 2020-07-29 criteria provided, single submitter clinical testing

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