ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.2895G>T (p.Val965=)

gnomAD frequency: 0.00001  dbSNP: rs199734638
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712647 SCV000722656 likely benign not provided 2019-01-08 criteria provided, single submitter clinical testing
Invitae RCV001442988 SCV001645946 likely benign Pitt-Hopkins-like syndrome 2 2023-08-23 criteria provided, single submitter clinical testing

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