ClinVar Miner

Submissions for variant NM_181332.3(NLGN4X):c.1779C>G (p.Leu593=) (rs3747334)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082035 SCV000113970 benign not specified 2013-10-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000999811 SCV000604544 benign Asperger syndrome X-linked 2 2019-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715473 SCV000846302 benign History of neurodevelopmental disorder 2014-12-13 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000755324 SCV001095345 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082035 SCV000152084 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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