ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.1326A>C (p.Val442=) (rs201485014)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724283 SCV000224880 uncertain significance not provided 2014-11-18 criteria provided, single submitter clinical testing
GeneDx RCV000173732 SCV000518452 likely benign not specified 2018-02-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000469874 SCV000562386 benign Pitt-Hopkins-like syndrome 2 2017-07-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000173732 SCV000596070 likely benign not specified 2016-10-04 criteria provided, single submitter clinical testing

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