ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.777C>T (p.Asp259=)

gnomAD frequency: 0.00003  dbSNP: rs587780407
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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 RCV000117843 SCV000152114 uncertain significance not provided 2013-04-10 criteria provided, single submitter clinical testing
Invitae RCV001403661 SCV001605537 likely benign Pitt-Hopkins-like syndrome 2 2023-10-03 criteria provided, single submitter clinical testing
GeneDx RCV000117843 SCV001780739 likely benign not provided 2021-03-10 criteria provided, single submitter clinical testing

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