ClinVar Miner

Submissions for variant NM_031407.7(HUWE1):c.957G>T (p.Gln319His)

gnomAD frequency: 0.00003  dbSNP: rs782234241
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193344 SCV000247593 uncertain significance not specified 2015-06-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003765224 SCV004611511 benign not provided 2023-08-25 criteria provided, single submitter clinical testing

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