ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.1158+26A>T (rs201802152)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117834 SCV000152104 uncertain significance not provided 2014-03-24 criteria provided, single submitter clinical testing
GeneDx RCV000188225 SCV000241832 uncertain significance not specified 2017-10-31 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the NRXN1 gene. The c.1278+5 A>T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1278+5 A>T variant is observed in 28/7878 (0.4%) alleles from individuals of South Asian background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Several in-silico splice prediction models predict that c.1278+5 A>T has no impact on splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Illumina Clinical Services Laboratory,Illumina RCV000393261 SCV000431209 uncertain significance Pitt-Hopkins-like syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000117834 SCV000651807 likely benign not provided 2019-02-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719842 SCV000850713 uncertain significance History of neurodevelopmental disorder 2017-05-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence

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