ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.1135-8C>T

gnomAD frequency: 0.00001  dbSNP: rs1430859209
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543447 SCV000651806 likely benign Pitt-Hopkins-like syndrome 2 2023-12-23 criteria provided, single submitter clinical testing
GeneDx RCV001755882 SCV002007478 uncertain significance not provided 2019-10-15 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge

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