ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.339C>T (p.Ala113=)

gnomAD frequency: 0.00006  dbSNP: rs767682431
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000488194 SCV000575210 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001408122 SCV001610109 likely benign Pitt-Hopkins-like syndrome 2 2024-12-07 criteria provided, single submitter clinical testing
GeneDx RCV000488194 SCV002006938 likely benign not provided 2020-09-18 criteria provided, single submitter clinical testing

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