ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.3675G>A (p.Thr1225=)

gnomAD frequency: 0.00004  dbSNP: rs200179221
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502923 SCV000596063 uncertain significance not specified 2015-08-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001454591 SCV001658323 likely benign Pitt-Hopkins-like syndrome 2 2024-06-10 criteria provided, single submitter clinical testing
GeneDx RCV001566075 SCV001789543 likely benign not provided 2020-01-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535606 SCV004727544 likely benign NRXN1-related disorder 2019-08-01 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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