ClinVar Miner

Submissions for variant NM_001135659.2(NRXN1):c.498G>A (p.Ala166=) (rs201212909)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724556 SCV000227212 uncertain significance not provided 2015-02-17 criteria provided, single submitter clinical testing
GeneDx RCV000186643 SCV000170803 benign not specified 2013-07-10 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 RCV000547550 SCV000651832 likely benign Pitt-Hopkins-like syndrome 2 2017-05-07 criteria provided, single submitter clinical testing

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