ClinVar Miner

Submissions for variant NM_138735.4(NRXN1):c.49GGC[7] (p.Gly17[7]) (rs750165040)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000366083 SCV000331872 benign not specified 2017-08-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716059 SCV000846892 benign History of neurodevelopmental disorder 2017-09-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data,General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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