ClinVar Miner

Submissions for variant NM_181332.3(NLGN4X):c.2280C>T (p.Tyr760=)

gnomAD frequency: 0.00384  dbSNP: rs75350246
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082037 SCV000113972 benign not specified 2013-10-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313816 SCV000847393 likely benign Inborn genetic diseases 2015-11-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV000883600 SCV001026921 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935065 SCV004756139 benign NLGN4X-related condition 2021-04-19 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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