ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.141C>T (p.Ala47=) (rs111518952)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082347 SCV000557485 benign heterogeneous nuclear ribonucleoprotein G, human 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711968 SCV000842379 benign not provided 2018-06-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717662 SCV000848517 likely benign History of neurodevelopmental disorder 2016-05-18 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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