ClinVar Miner

Submissions for variant NM_031407.7(HUWE1):c.9802C>T (p.Pro3268Ser)

gnomAD frequency: 0.00001  dbSNP: rs1045935059
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Lab, University of California San Francisco RCV001007940 SCV001167653 uncertain significance Global developmental delay 2019-01-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549275 SCV003478233 benign not provided 2023-03-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003160166 SCV003876948 likely benign Inborn genetic diseases 2023-01-26 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.

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