ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.3365-110131T>G

gnomAD frequency: 0.00279  dbSNP: rs193267438
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000209863 SCV000265535 likely benign Pitt-Hopkins-like syndrome 2 2016-07-14 criteria provided, single submitter research
GeneDx RCV001574910 SCV001801799 likely benign not provided 2018-06-29 criteria provided, single submitter clinical testing

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