ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.1875T>A (p.Leu625=)

dbSNP: rs2105260301
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002183850 SCV002477911 likely benign Pitt-Hopkins-like syndrome 2 2022-02-04 criteria provided, single submitter clinical testing

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