ClinVar Miner

Submissions for variant NM_181332.3(NLGN4X):c.897A>G (p.Ile299Met) (rs151073358)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000431586 SCV000511704 likely benign not provided 2017-01-18 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Ambry Genetics RCV000719543 SCV000850411 benign History of neurodevelopmental disorder 2017-01-16 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification;General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000431586 SCV001094343 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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