ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.1059A>C (p.Ala353=)

gnomAD frequency: 0.00003  dbSNP: rs200259338
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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 RCV000558951 SCV000651804 likely benign Pitt-Hopkins-like syndrome 2 2024-12-24 criteria provided, single submitter clinical testing
GeneDx RCV001533802 SCV001750665 likely benign not provided 2019-12-09 criteria provided, single submitter clinical testing

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