ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.583C>T (p.Leu195=)

gnomAD frequency: 0.00006  dbSNP: rs923508164
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720228 SCV000526246 likely benign not provided 2021-09-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000898686 SCV001042908 likely benign Pitt-Hopkins-like syndrome 2 2024-07-15 criteria provided, single submitter clinical testing

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