ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser) (rs78540316)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079510 SCV000111392 benign not specified 2015-02-17 criteria provided, single submitter clinical testing
GeneDx RCV000079510 SCV000241854 benign not specified 2016-12-19 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.
Genetic Services Laboratory, University of Chicago RCV000079510 SCV000248272 likely benign not specified 2015-06-11 criteria provided, single submitter clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000209954 SCV000265534 likely benign Pitt-Hopkins-like syndrome 2 2016-07-14 criteria provided, single submitter research
Invitae RCV000857869 SCV000286209 benign not provided 2019-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716228 SCV000847066 likely benign History of neurodevelopmental disorder 2017-05-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data
Athena Diagnostics Inc RCV000857869 SCV001144779 benign not provided 2018-09-18 criteria provided, single submitter clinical testing

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