ClinVar Miner

Submissions for variant NM_181303.2(NLGN3):c.10C>T (p.Arg4Trp)

gnomAD frequency: 0.00009  dbSNP: rs376877146
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000487940 SCV000575647 uncertain significance not provided 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318592 SCV000851957 benign Inborn genetic diseases 2017-12-18 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 RCV000487940 SCV001088382 benign not provided 2018-11-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821407 SCV002068478 likely benign not specified 2018-03-06 criteria provided, single submitter clinical testing

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