ClinVar Miner

Submissions for variant NM_181332.3(NLGN4X):c.1251G>C (p.Arg417=)

gnomAD frequency: 0.06453  dbSNP: rs61741754
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082031 SCV000113966 benign not specified 2013-04-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311694 SCV000846476 benign Inborn genetic diseases 2014-12-13 criteria provided, single submitter clinical testing This alteration is classified as 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.
Genetic Services Laboratory, University of Chicago RCV000082031 SCV000152082 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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