ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.1575A>G (p.Arg525=) (rs201941844)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127241 SCV000170796 benign not specified 2013-05-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000127241 SCV000248274 uncertain significance not specified 2015-01-30 criteria provided, single submitter clinical testing
Invitae RCV001082810 SCV000651810 benign Pitt-Hopkins-like syndrome 2 2020-11-11 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712449 SCV000842945 likely benign not provided 2018-03-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717983 SCV000848844 likely benign History of neurodevelopmental disorder 2017-01-17 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000712449 SCV001931767 likely benign not provided no assertion criteria provided clinical testing

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