ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.3364+20T>C

gnomAD frequency: 0.25608  dbSNP: rs3213756
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079526 SCV000111408 benign not specified 2016-03-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000079526 SCV000306818 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001513082 SCV001720616 benign Pitt-Hopkins-like syndrome 2 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001675605 SCV001893466 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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