ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.2625T>C (p.Asn875=)

gnomAD frequency: 0.00001  dbSNP: rs764347791
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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 RCV001450675 SCV001654289 likely benign Pitt-Hopkins-like syndrome 2 2021-02-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485462 SCV002797969 likely benign Pitt-Hopkins-like syndrome 2; Chromosome 2p16.3 deletion syndrome 2021-09-21 criteria provided, single submitter clinical testing

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