ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.772+9del

dbSNP: rs755130575
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194609 SCV000248291 uncertain significance not specified 2014-06-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001400508 SCV001602312 likely benign Pitt-Hopkins-like syndrome 2 2024-12-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530137 SCV004743640 likely benign NRXN1-related disorder 2019-03-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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