ClinVar Miner

Submissions for variant NM_181303.2(NLGN3):c.807C>T (p.Ser269=)

gnomAD frequency: 0.00064  dbSNP: rs151276700
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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 RCV000896190 SCV001040270 benign not provided 2018-10-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000896190 SCV001962640 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing NLGN3: BS2
Genetic Services Laboratory, University of Chicago RCV001818713 SCV002066133 benign not specified 2017-08-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390879 SCV002671366 benign Inborn genetic diseases 2018-03-20 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.
PreventionGenetics, part of Exact Sciences RCV003922870 SCV004742312 likely benign NLGN3-related disorder 2020-01-28 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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