ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.2375-4A>G

gnomAD frequency: 0.00003  dbSNP: rs747910295
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697359 SCV000716411 likely benign not provided 2021-01-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001423384 SCV001625962 likely benign Pitt-Hopkins-like syndrome 2 2024-07-18 criteria provided, single submitter clinical testing

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