ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.2459G>A (p.Ser820Asn)

gnomAD frequency: 0.00013  dbSNP: rs80293130
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000728599 SCV000241881 likely benign not provided 2020-09-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000188271 SCV000248279 uncertain significance not specified 2014-07-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000515422 SCV000611415 uncertain significance Pitt-Hopkins-like syndrome 2; Chromosome 2p16.3 deletion syndrome 2017-05-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000706193 SCV000835231 likely benign Pitt-Hopkins-like syndrome 2 2025-02-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317133 SCV000851423 uncertain significance Inborn genetic diseases 2021-10-15 criteria provided, single submitter clinical testing Unlikely to be causative of NRXN1-related neurodevelopmental disorder (AD) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Eurofins Ntd Llc (ga) RCV000728599 SCV000856192 uncertain significance not provided 2017-08-23 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000728599 SCV002541829 uncertain significance not provided 2021-07-21 criteria provided, single submitter clinical testing

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