ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.141C>T (p.Ala47=)

gnomAD frequency: 0.00536  dbSNP: rs111518952
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002525655 SCV000557485 benign Developmental and epileptic encephalopathy, 54 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711968 SCV000842379 benign not provided 2018-06-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313202 SCV000848517 likely benign Inborn genetic diseases 2016-05-18 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.
GeneDx RCV000711968 SCV001768225 likely benign not provided 2021-11-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000711968 SCV005260508 likely benign not provided criteria provided, single submitter not provided

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