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: 5
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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: 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 RCV000883600 SCV001026921 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000883600 SCV005207921 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003935065 SCV004756139 benign NLGN4X-related disorder 2021-04-19 no assertion criteria provided 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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