ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.192C>T (p.Arg64=)

dbSNP: rs748944452
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598237 SCV000704449 uncertain significance not provided 2017-01-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002062039 SCV002488077 likely benign Pitt-Hopkins-like syndrome 2 2024-01-10 criteria provided, single submitter clinical testing

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