ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.4518T>C (p.Tyr1506=)

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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 RCV002765402 SCV003018672 likely benign Pitt-Hopkins-like syndrome 2 2022-08-10 criteria provided, single submitter clinical testing

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