ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.4217-16A>C

gnomAD frequency: 0.00964  dbSNP: rs74520052
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127234 SCV000170788 benign not specified 2012-05-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002055715 SCV002325770 benign Pitt-Hopkins-like syndrome 2 2025-02-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505094 SCV002802983 likely benign Pitt-Hopkins-like syndrome 2; Chromosome 2p16.3 deletion syndrome 2022-05-24 criteria provided, single submitter clinical testing

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