ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.3365-109899A>G

gnomAD frequency: 0.00012  dbSNP: rs562219421
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001718856 SCV000513974 likely benign not provided 2019-02-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22405623)
Ambry Genetics RCV002314153 SCV000848044 likely benign Inborn genetic diseases 2016-10-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV001718856 SCV002063864 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing NRXN1: BP4, BP7
Fulgent Genetics, Fulgent Genetics RCV002502477 SCV002808866 likely benign Pitt-Hopkins-like syndrome 2; Chromosome 2p16.3 deletion syndrome 2022-03-30 criteria provided, single submitter clinical testing

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