ClinVar Miner

Submissions for variant NM_031407.7(HUWE1):c.8495-20T>C

gnomAD frequency: 0.00576  dbSNP: rs181550223
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001571697 SCV001796211 likely benign not provided 2019-07-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002449377 SCV002678975 benign Inborn genetic diseases 2019-07-23 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 RCV001571697 SCV003031597 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001571697 SCV005210510 likely benign not provided criteria provided, single submitter not provided

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