ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.3403A>G (p.Ile1135Val)

gnomAD frequency: 0.00003  dbSNP: rs765360600
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000361626 SCV000343870 uncertain significance not provided 2016-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001303278 SCV001492518 benign Pitt-Hopkins-like syndrome 2 2023-09-28 criteria provided, single submitter clinical testing
GeneDx RCV000361626 SCV001805720 likely benign not provided 2019-02-01 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22405623)

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