ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.2169C>T (p.Ala723=) (rs11537737)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082667 SCV000557486 benign heterogeneous nuclear ribonucleoprotein G, human 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000516452 SCV000613667 benign not provided 2018-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715861 SCV000846693 likely benign History of neurodevelopmental disorder 2016-12-23 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)

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