ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.4275G>A (p.Arg1425=)

dbSNP: rs143495349
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001438621 SCV001641499 likely benign Pitt-Hopkins-like syndrome 2 2023-12-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003405666 SCV004146120 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing NRXN1: BP4, BP7

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